gda disease gene score source associationType pmid sentence
http://rdf.disgenet.org/resource/gda/DGNf45facd41a1f0f596572704ca3b73b29 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19127539
"[Further, research on Rett syndrome has revealed an unforeseen role for methyl-CpG-binding protein 2 (MeCP2) in neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9613df7f379c87fdc3d3dc2596c753c8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/20473347
"[Evolving role of MeCP2 in Rett syndrome and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN33d3e0b1c1665f56f9f8d7558915b2a5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23238081
"[These results suggest that MeCP2 has a stabilizing role on MT dynamics and that its deficiency could lead to impaired MT stability that may explain in part the dendritic abnormalities observed in RTT brains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5aa215e56a919df0685fe6987ccdeb95 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17309881
"[FXYD1 is is identified as a MeCP2 target gene whose de-repression may directly contribute to Rett syndrome neuronal pathogenesis]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN26a87154083987ee8c5f213b3bdf0777 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11309679
"[MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN69efee4cbb81a2437df1c87c3c96bdd2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17178248
"[Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8e335bfa15015d2f7868ebda956f7db6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11248398
"[A candidate gene called methyl-CpG-binding protein 2 was identified from the Xq28 region and was shown to contain mutations in about 77% of Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN76f07f30eb921930c9534258c2d8e594 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16859563
"[Because MECP2 is subject to X chromosome inactivation (XCI), girls with RTT express either the wild type or mutant MECP2 in each of their cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN99aae2caa0bc6db3dc6155976eff496b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19652677
"[This is the first genetic study of Rett syndrome in New Zealand patients describing the MECP2 mutational spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe4c503282acc8ba34a186563f5a16868 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17160339
"[In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome.This article is an introduction to RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNff76af18f14439ed079afc77591dbbc5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20345957
"[Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN43598093451ae67d3763c0cbaa56bb55 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16080119
"[Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4a4d2123dcf98060459f62632b163ef1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17531413
"[The prevalence of sleep problems was highest in cases with a large deletion of the MECP2 gene and in those with the p.R294X or p.R306C mutations/problems are common in Rett syndrome and there is some variation with age and mutation type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN732901cc7327ed5ebf3fd48efa6e4537 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16530985
"[Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbb0c9ddd87bea2babaa259000d0d7cbf http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19464363
"[Rett syndrome (RS), a progressive severe neurodevelopmental disorder mainly caused by de novo mutations in the X-chromosomal MeCP2 gene encoding the transcriptional regulator methyl-CpG-binding protein 2, is a leading cause of mental retardation with autistic features in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc9a55bee78add2575536466ee7610445 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25428820
"[Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdae53716bbc3715a526f52b6b7a2e840 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15866439
"[Another patient with MECP2 mutation without classic Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf02bad32652ba729bf6490dc3d45dd5d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23622176
"[" Mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) involve most of the classical RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN28fa7d227922439551d23e4c512bf3e7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15875198
"[Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5deb85f21db1d0e2bd52ec3e0b36822f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17276711
"[Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN61074bd84ffe3c4813ece9e56f0bc0eb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15608638
"[Mutations in MECP2 are associated with Rett syndrome, an X-linked neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9f93412c5f52375542720786b03d0a78 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20153689
"[EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN88f75448af0579f336107e3dfc9c8dca http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19495527
"[The X-linked dominant inheritance of RS has been mapped to the gene that encodes the methyl-CpG-binding protein-2 (MECP2) at Xq28.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa4b836654df600fc2e3cb1083b51280b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20384458
"[Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcbf86842193501f027423244cc53e114 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12872251
"[Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfe35f77db01afb37eb1256c5e6429c1e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22474603
"[Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfa8e61c2387c4cf0b65e02b925abc1c6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22123427
"[Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNff084b009887a2d28938606ab820ce97 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19573459
"[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5e433742b1450b29248e4855879d47d4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12966523
"[Older women with RTT are underdiagnosed: seven adults were first diagnosed as having RTT between 29 and 60 years of age, and confirmed on finding a MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8364bc1d21e75da0731e62201ad8184c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12112735
"[The relationship between type of MeCP2 mutation, X-inactivation status, and clinical phenotype of Rett syndrome is complex and likely involves other environmental and polygenic modifiers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa209c75ef4be4a2281a81c35fbc44de7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15635068
"[Rett syndrome is caused by mutations in MECP2 in the majority of cases.(review)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc14fadc480b1db61f570f06709b3d9ec http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11446411
"[A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN831c0a487ae640c320de32979a36509a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11180222
"[MECP2 mutations thus manifest in a far broader array of phenotypes than classic RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN88efdfbef4912746e8deee7c6518d826 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25283752
"[Participants were individuals enrolled in the Rett Syndrome Natural History Study with clinical diagnosis of Rett syndrome or mutations in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb023b1d5a43bbdf13996aa072e16fc72 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738860
"[Spectrum of MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbde1b635b118fa91d4d717a25e0a5c41 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17420401
"[Stereotypies in Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNee42a7794b2f413db0c9348fb704a33a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16376510
"[Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3fc3a912945c91ca0e81d04e26bbe7ab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26228846
"[We conclude that many individuals with MECP2 mutation exhibit characteristics that should raise suspicion for RTT, prior to evolution of the core clinical criteria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN51d6d2a38e3f7e2e09b4953bfa90b4dd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11402105
"[MeCP2 mutations in children with and without the phenotype of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN84ce77a8f258e1c2e36211c1c53529b9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19809484
"[Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7e33117c7231b6908c1c175f1dbc85c6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19404254
"[Finally, we used EOS selection to establish Rett syndrome-specific mouse and human iPS cell lines with known mutations in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcaaea20f43dd08cd8667259b504e2c46 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19190538
"[Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNecddd9889206da42b9c5fc4c7afebb7c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25299635
"[Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd44a39faa5b1d2d34cdb6cb2d3ba986c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21285040
"[Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf21b0f65b57d6d5bedc2333f3d3353ad http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16647997
"[Mutations in the MECP2 gene are associated with Rett syndrome and French laboratories have organized a clinical and molecular network to investigate the incidence of Rett syndrome in France including the results of molecular investigations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN245cfc4971f4e733437742f4676fde4a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/26012557
"[Moreover, MeCP2 deficiency triggers perturbation of astrocytic gene expression, yielding accelerated astrocyte formation from RTT-hiPSC-derived neural stem cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN997d3e61da76c0ffe7cf0f39010485be http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24776956
"[Relative to the stranger's voice, gamma activity in response to the mother's voice was increased in MECP2 duplication but decreased in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb35b6304022fa840c034ad2250c2b21d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19174478
"[This raises hopes for a cure of Rett syndrome and related MeCP2 deficiency disorders of the autistic spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0beacea335d490aed97c0c8bd2b33b06 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16418599
"[Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3b0e10bfe93804fedd4538cda6239de9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16682435
"[Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNaf7e346dcec29fbccf8c55b120b545be http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19921286
"[Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3f96552ed742c11592486b7ab14da5e1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23348913
"[Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb24dc76b9306fc4e424f880b85f133ea http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16446138
"[Our results provide in vivo evidence for a functional interaction between Mecp2 and Bdnf and demonstrate the physiological significance of altered BDNF expression/signaling in RTT disease progression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8112d485b43e0b1f4ae54a01fb8d0ed7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11106281
"[MECP2 encodes a methyl-CpG-binding protein (MeCP2), which is critical for transcriptional silencing of an as yet unknown number and type of genes responsible for the pathobiology of RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa5cf8026bf8b61c72d3abb6b99f4a153 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25861995
"[In this review, we present an overview of RTT and describe the current state of preclinical studies in methyl CpG binding protein 2-based mouse models, as well as current clinical trials in individuals with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc5f721dad8170ab894dfbf2994d83c56 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/3087200
"[The most parsimonious method of locating the site of the Rett syndrome gene is to do high resolution banding in all Rett syndrome cases, searching for X-chromosome deletions, or less likely, X:autosome translocations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9266af700801b292d5d38201570c17c1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22249109
"[MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0e7d5de062e95f4b9500e7936338c061 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21824415
"[The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3100947818c9e40780573e22f5268cab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25732612
"[This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN449172c356953e3dc07c09f0d16e053d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10814719
"[MECP2 mutations account for most cases of typical forms of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN968cc5cf0cb8f88a23eb217b52421980 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23035069
"[In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9f8547985ffae71732781b96ac1596ba http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20236124
"[The availability of MECP2 testing has led to the identification of such mutations in girls with atypical RTT features and the recognition of milder forms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1209427d7a0e84013b4a181e7be14c10 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11896459
"[Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN145516381d269101cf474c5c30a20d4d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15737703
"[Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN689afb4dbf63eb41877d2fb9b488c4ab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17965612
"[alterations in the affinity of MeCP2 for chromatin might contribute to the pathological effects of mutations causing Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8bcb414d00bfe999157d4227fc849095 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11930274
"[This malformation was visibly more severe than previously described in females with RS and another male with an MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8cdb230a1bbdcc3ecd6ae16b68897448 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25899208
"[No abnormalities were found on analysis of MECP2 gene for Rett syndrome and a DNA methylation test for Prader-Willi syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4a5226e7b3b1674c76c5331b7a1ae848 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18174548
"[The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or another diagnosis in association with MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN629ed7f0f8489f98d7ed34180e2d3785 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17101000
"[A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN77ee46e67b206a59b052e29e0f9d52f4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18332345
"[This multicenter investigation into the phenotypic correlates of MECP2 mutations in Rett syndrome has provided a greater depth of understanding than hitherto available about the specific phenotypic characteristics associated with commonly occurring mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf64ba52a17a1a8a376bfd9a8b2e2d60f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19851857
"[Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN52e912101fffaf88f85cbb178464078d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19194883
"[Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNabc9c206c812c521ffeb8b1cb02a312b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26930212
"[Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) are neurodevelopmental disorders caused by alterations in the methyl-CpG binding protein 2 (MECP2) gene expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdb6cc40dd32cbb14a45e38082631e1b7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19833297
"[The neurological disorder most intensely studied with regard to epigenetic changes is Rett syndrome; patients with Rett syndrome have neurodevelopmental defects associated with mutations in MeCP2, which encodes the methyl CpG binding protein 2, that binds to methylated DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe7992646e4b261a2756edc9b3b37a468 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16708070
"[Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfaa42d4ce3d0d51b67ef6454a6e51b02 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12111643
"[the spectrum of MECP2 mutations in Chinese patients with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3856d97150f468df26d6f08f53032430 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24508304
"[Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2cf4672dac464c77b6aece10b430523e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25644311
"[MECP2 mutations cause the X-linked neurodevelopmental disorder Rett Syndrome (RTT) by consistently altering the protein encoded by the MECP2e1 alternative transcript.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN398b05375c4e3fc1abd12860bc6395e0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21325263
"[A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5d63572910af377dfbc0270a547c05af http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26686505
"[Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6bb3551e99960bdf7fc6661b40dc79cb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17986102
"[This is the first genetic study of Rett syndrome in Serbian patients describing the MECP2 mutational and phenotypic spectrum in this population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN71a0511ccefa6e82132e99931cfabef6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738864
"[We confirmed that the preserved speech variant is one of the clinical phenotypes of RTT and is also caused by MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa35d3b208fb712a5e2a4959171e5582c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18477000
"[Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc40cdfc1b847df73df69b55b01e18803 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15211631
"[In this study, DNA samples from individuals with schizophrenia and other psychiatric diseases were scanned in order to explore whether the phenotypic spectrum of mutations in the MECP2 gene can extend beyond the traditional diagnoses of RTT in females and severe neonatal encephalopathy in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc35cd14d56d3b9af8bf9c21510261dac http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20399386
"[This study examined the effects of sedation on auditory brainstem response interpeak latency intervals (i.e., I-III, III-V, and I-V) in two groups: (1) a group with Rett syndrome who were positive for mutations in the MECP2 gene and (2) a group negative for mutations in the MECP2 gene but who were severely to profoundly delayed with other causes of mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNca434433195000498d8550536d24e440 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11269512
"[Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe69e8c355eb6aa40b6671acb8fb84cf1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20623622
"[Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe1ed3c954af93b395e972986c1963090 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21600714
"[In this study, we present a mutational and gene dosage analysis of the MECP2 in a cohort of 60 Brazilian males with autistic features but not RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNff7862b78d6a28726873131ad3fcf9a9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738842
"[The discovery of the mutations of methyl-CpG-binding protein 2 (MECP2) gene as the causative gene of RTT is an epoch helping not only to understand the pathophysiology of RTT but also various neurodevelopmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN038d4355042233bc5d4b84ae8bcfed0c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17341617
"[The MECP2 gene mutation screening in Rett syndrome patients from Croatia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0670be6bfb5fb3716ed9da8d67a53b67 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18652533
"[Rett syndrome is an X-linked dominant disorder that usually arises following a single de novo mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4eb15b35a527ba0f6de6b10ec4789984 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16182491
"[Most cases of Rett syndrome (RTT) are associated with mutations/the basis of molecular structure, ontogeny, and subcellular and regional distribution, MeCP2 appears to be a link between synaptic activity and neuronal transcription.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7fdc1adc7a74a39c8b113e7137f27c1e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16225827
"[In contrast, male individuals with mutations in the MECP2 gene are rare, and only a minority have clinical symptoms resembling Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf232069bcbac8ed3e6d0c44b7387c0ed http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21232889
"[In addition, we have performed near-infrared spectroscopy of the cerebral cortices in patients with RTT and genetic studies of the methyl-CpG-binding protein 2 (MECP2) in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0138fdfb8ca63301b64d1784e8e8f185 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14974082
"[Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN26ebbad699bfc6d6ab5a278892bbe931 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11402105
"[MeCP2 mutations in children with and without the phenotype of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4b36a8ecb91d62eac688585ae911fad5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738869
"[It is the cluster of functionally defective nerve cells lacking fully functional MeCP2 generated by inactivation of normal MECP2 allele that causes the wide spectrum of RTT symptoms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN700377418683b9ed9eec8c84c61e42e1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19365833
"[Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfc63b5b79cf545dd8c895d17336e2ef3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26287660
"[Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1d7a896022ae5384e545843dd5b18dec http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738883
"[Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1185fda5ed38b23baa0f31725009c595 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14981718
"[A separate cohort of 43 atypical patients with features common to AS and RS, in whom 15q11-13 lesions and 22q13.3 --> qter deletion had been ruled out, were also screened for MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN20bf7ed2f0b797492a0d0034d047f08f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22865604
"[Mutations in the gene encoding the methyl-CpG-binding protein MECP2 are the major cause of Rett syndrome, an autism spectrum disorder mainly affecting young females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN676f4fa862f51e05d39fef3159b5dab6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25389532
"[Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN706dc515d21f6351a5beaae6e2e07558 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20728410
"[Epilepsy in Rett syndrome: clinical and genetic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5ecb8be06458a2c8d264f71d9cc40e39 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21982064
"[MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6a728570634585cfd8cb5a546abb6e45 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10508514
"[Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000-15,000 (ref.2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb6da23472cb85e6252493ce874ef8f46 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12384770
"[Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe7a11484ab51bf4660a918e3fdd39f83 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18434641
"[We found that some RTT features can be correlated with MECP2 genotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd96a32b858c8fc07329c81ae36e6da14 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16023547
"[This contrasted with the lack of significant association between location of MeCP2 mutation and severity of the RTT neurologic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNed2b9d3c9c4c187f193102126314682a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26647311
"[We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1927566c1d2623625687732258cc5d11 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24668484
"[This chapter reviews the still evolving story of how MeCP2 might regulate expression of BDNF, the functional consequences of BDNF deficits in Mecp2 mutant mice, and progress in developing BDNF-targeted therapies for the treatment of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2dbb13055a72994632eb36991b398943 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11214906
"[In order to provide further insights into the distribution and the spectrum of mutations, we investigated, in addition to the whole coding sequence, a phylogenetically conserved sequence within the 3' untranslated region (3' UTR) of the MECP2 gene for 55 sporadic RTT, including 47 typical and 8 nonclassical cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN39b72f7bf0532a9356188827a8ada2f7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19623215
"[Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN57277be083774faa3d23b097476cf70d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10814719
"[MECP2 mutations account for most cases of typical forms of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN88be83643fa1b1afe08dde4dad81f08f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16502428
"[We recruited 115 patients with RTT (females: 25 classic and 84 atypical; 6 males) but no mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN92765e53eb31db89350a7319f7890eb4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15917271
"[CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbaacf7c38eafe3fc6b712f1d40654068 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17296936
"[Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfc9558c64967637347e4050b96b132c1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21934280
"[Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNed1dffaa72204b15e1a59101b1d6bdc4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23112857
"[The X-linked Mecp2 is a known interpreter of epigenetic information and mutated in Rett syndrome, a complex neurological disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfe104e6bc72033f64ba16cfb755b0fb3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23242510
"[Both the classic and atypical forms of Rett syndrome are primarily due to mutations in the methyl-CpG-binding protein 2 (MECP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4e1916ef0b94af9c50004178cb80e43b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24453418
"[Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN35d8253efc81a370c6b4b58a9b5ec1cf http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12170461
"[Mutations in MECP2 gene were found over 50% of patients with Rett syndrome in China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN54578d68037c2f9322b7d704e990178a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18842453
"[Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN742672d12e914dd53ed40253f5a961ff http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15841480
"[Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN74dd034271e9c59dbedd7e8f4dc64910 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17028371
"[The finding that MECP2 levels are tightly regulated in neurons has important implications for the design of gene replacement or reactivation strategies for treatment of RTT, because affected individuals typically are somatic mosaics with one set of cells expressing a mutated MECP2 from the affected X, and another set expressing normal MECP2 from the unaffected X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa0873819ebd323abf0575f8788abde08 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22525432
"[Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are associated with Rett syndrome (RTT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNade873103ecf186d0b851833093705f0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12707377
"[Rett syndrome is a neurodevelopmental disorder that affects females almost exclusively, and in which eight common point mutations on the X-linked MeCP2 gene are knows to cause over 70% of mutation-positive cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd99792769fb1148e8133df888696ae2d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12210319
"[We present a girl with a previously described mutation in the MECP2 gene whose phenotype is of atypical RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf0b93e5cf725a6c24305d629fbe59aff http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10991688
"[Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd7f2d9d61c4dd2302f7d89ecb08ae164 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22758644
"[The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNecd7bce29f16a073ff5b2ee50d5077dc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16155192
"[Recent reports of another mRNA transcript transcribed from exon 1 (MeCP2_e1) prompted us to screen exon 1 among RNA samples from 20 females with classic or atypical RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1846a46c61e6111763e010f661721388 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12872250
"[Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5af47b93965d9fd31c249400076d29c4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18512755
"[Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8034bfe3001a63a8f6e5e6e29a8028ef http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16399702
"[Study of transgenic mice expressing a truncated allele of Mecp2 demonstrates a requirement for MeCP2 in learning and memory and suggest that functional and ultrastructural synaptic dysfunction is an early event in the pathogenesis of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9cbee95d31842518bb68f6b76cbece14 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10767337
"[Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN007d7ed39cdf9f9c64a66e6825ec9f4a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/11532982
"[Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN10d5f69188333c369a04592c56b8fe24 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/26843422
"[MeCP2 encodes a methyl-CpG-binding protein that plays a critical role in repressing gene expression, mutations of which lead to Rett syndrome and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN613fe0aed6cadd63d3d541cdf076f671 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/20716963
"[Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa593a9942f0cec2ce7cbd728644392b1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/22357617
"[Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4f37bb48eb9c9ddc1ddae1826d330d32 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16682435
"[All 4 inhibitors of differentiation (ID) proteins were significantly increased in Mecp2-deficient Rett syndrome brain; ID genes are ideal primary targets for MeCP2 regulation of neuronal maturation that may explain molecular pathogenesis of Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN89ee47a0786e14507f99204ebf844c8b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19058783
"[Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNade81a96994c3947f8b1eef73f9bf09c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15791137
"[Developmental studies suggest an important role for MeCP2 in the formation and/or maintenance of synapses, and clarify the molecular biological aspects of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc8dcd4ac2c21f1e68cbf7359c714247d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11005791
"[Although much is known about the biochemical function of MeCP2, the phenotype of Rett syndrome suggests that it plays an unexplored but critical role in development and maintenance of the nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4331ca6b36f98494bc387c085ea25cde http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21916843
"[MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc8f533b90c69df6fb6e041e8d404a64c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26214522
"[Therefore, the elevated PTP1B that accompanies disruption of MECP2 function in RTT represents a barrier to BDNF signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe1acf5254484c7409f80146bd23f9a13 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25960047
"[Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf67a28c89a12268a676196038a98d5d2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/18321865
"[Mice lacking MeCP2 have been generated and constitute important models of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8ea5b3aab033f1b31b4abe91bc0b9bba http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15034579
"[A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN99a4f6c5dd4e3eea097c147a114f50d9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22213695
"[Altogether, our work further supports our hypothesis that MECP2_e1 is the predominant isoform involved in the neuropathology of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe317447097c2a48f84e9cb11ecf626a0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22343140
"[Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2910382d2c53a4ec59640d3da188a19f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19628041
"[These findings have broad implications for the role of MECP2 in neurodevelopment and RTT, given the critical role of the semaphorins in the formation of neural circuits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1a8d92d214dc9c74ebc6c472d80367df http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12065946
"[Recurrence within RTT families can be due to asymptomatic nonpenetrant carrier mothers or to parental germinal mosaicism for the MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4f336826df2071716becc633948d98ac http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11313755
"[Based on our case and reported data, we discuss the evidence for a second X-linked locus for RTT associated with lower penetrance, and a different pattern of XCI, than for MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb6f999a012ccebbca79d98d404096537 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077736
"[Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd272c9175158553803d5e325b0ad12cb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12850514
"[Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe0739f4840b8f5774faf3bcd0f2774ab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16690727
"[Analysis of the MECP2 gene revealed mutations that are often found in classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1cf100dd5fafd6eb9a2472a4ea67d13a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10745042
"[In this study, we have screened the MECP2 gene for mutations in our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN208aa85392009211dd2cd9785efbe4ca http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11313764
"[Parental origin of de novo MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN329cf693b6f7568fe036cbb3220dd176 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15888476
"[Rett syndrome (RTT) is an X-linked disorder caused by mutations in the methyl CpG binding protein 2 (MECP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4a70ca41937be5b97637a582962d97c4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18535484
"[Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN656b3838618e4147c0f66b63c52274da http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12075494
"[Recently mutations in MECP2, that encodes the methyl CpG binding protein 2 (MeCP2), have been found to cause RTT.MeCP2 has a role in gene silencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN97dc7cfb905d521970de25cce91d2d66 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18042715
"[Mutations in MECP2 cause the autism-spectrum disorder Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc402ea3591f339bccae3926f2c881864 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11376998
"[The diagnosis of RTT is clinically difficult before 3 years of age, especially in atypical cases, but molecular analysis of the MECP2 will assist diagnosis in some patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc48191ce0d7e53f3e8684ec97181c0bf http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11058114
"[Together, these results provide evidence of how Rett syndrome mutations can affect distinct functions of MeCP2 and give insight into these mutations that may contribute to the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdc87fd7c89f859c640a5466f90f999a4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11313756
"[MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf07d1d79e91b459ed17dc45b343e235b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26490184
"[Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN36f2486ba4bd09981d7fba683837e437 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12555243
"[Most female patients with MeCP2 mutations exhibit the classic features of RS, including autistic behaviors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN596a0ef2a184510eacb4971345e45e12 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16225831
"[In 1999, mutation of the methyl-CpG binding protein 2 (MECP2) gene encoding a transcriptional repressor on the X chromosome was found to cause Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6bd6dfa78a63ae814fcc8152c66fe253 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11332781
"[Partial preservation of object-oriented hand use (OOHU) was studied behaviorally in a 6-1/2-year-old girl with the preserved speech variant (PSV) of Rett syndrome (RS), associated with a T 158 missense MeCP2 mutation and favorably skewed X-inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd63d3fb2a6719dcffe254bb13b7dd0b7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077729
"[p.R270X MECP2 mutation and mortality in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNde6c702b9f7ffa6459688a1ac29db193 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18948693
"[Rett syndrome (RTT, MIM No.312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe9106d21cf679d9391cc20621856ce88 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25527496
"[Therefore, we decided to characterize a novel MeCP2 phospho-isoform (Tyr-120) whose relevance was suggested by a Rett syndrome patient carrying a Y120D substitution possibly mimicking a constitutively phosphorylated state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0834a2788f58e4bedd54fea222afbd79 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16832102
"[MECP2 mutations mainly occur in females with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN28c1bb81fc4c5c6522d224b9053ec6dd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23866855
"[Mutations in MECP2 are the main cause of Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN360a6dc897a6251d453892a7ef54032b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12112733
"[RTT is caused by mutations in MeCP2, a protein that was identified by its ability to bind specifically to CpG-methylated DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf0ce96f18d425aa1cd5c23d5f4e18176 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17089071
"[MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0d187cf491143db826572ad190ab1d8e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15689447
"[Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0f3e0dd06c4b14ff6cfbba32342ef6bd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23859859
"[Atypical features in MECP2 P152R-associated Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2fb3005da10276e7dbef12d6e232465b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19225139
"[We tested the hypothesis that increasing methyl-group pools might promote transcriptional repression by other methyl-binding proteins or by mutant methyl-CpG-binding protein 2 with altered affinity, ameliorating the clinical features of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe22b85c86d057cc0d58ab1789c306d22 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19309269
"[Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN088a3e6c9b0385b0cd8848567f5dfb04 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12615169
"[Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1eb9aa034a7ee91be078df9965a94921 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17439480
"[Rett syndrome (RS) is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein2 (MECP2) gene.No effective treatment exists.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN79f554caed76fe7da6e96573649c7c0f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11283202
"[RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN840bcbe2364f4c4c5ed1420a8523c92a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11071498
"[An MECP2 mutation can be identified in boys, even though they do not present a Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN794b6a72beb709527595e5a8f0bd00d3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738883
"[Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7d90c652b8cf8de1e942e86c23e30f2e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18512755
"[Rett syndrome Patients with truncating mutations present a higher rate & more severe dystonia & rigid-akinetic syndrome, when compared with groups with a similar time of disease evolution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN95eaa31aab5e19f5c226088be8d76f1d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16672765
"[Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN93872941e85e50175204f84793f36b30 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22113206
"[Rett syndrome (RTT) is a rare neurodevelopmental disorder frequently linked to methyl-CpG-binding protein 2 (MeCP2) gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNab4eb047bede20820abf894dbbf77424 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11432961
"[mutation and role in Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbc54d5aad451bf19ccff490900d7821c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11242117
"[A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2094084fc2139f09e6c39c8c8b00da4d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11371345
"[The structure indicates how MBD may access nucleosomal DNA without encountering steric interference from core histones, and provides a basis to interpret mutations linked to Rett syndrome in MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN434f4e4118341df901c3446f57033558 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19365833
"[Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN622678586e85bba8c222eb7f1583429c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20231667
"[Evaluations include clinical status (classic vs atypical RTT), MECP2 mutations, clinical severity, and presence, frequency, and treatment of seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN91290516d5018632734a637bbeab8a2b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17363207
"[Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder mostly affecting female and is mainly caused by mutations of methyl-CpG-binding protein 2 gene (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9c77f48af43112e3d2af01ed0bca8364 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11960578
"[MECP2 analysis identified mutations in almost all cases of typical Rett syndrome, as well as in some with atypical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN591b51767204569647079df674c4a68a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738871
"[Our results indicate that the normal allele of the MeCP2 gene could escape X inactivation and reduce the pathogenic effect of mutated allele in RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8592fd526eed187a5b1ce2ce6eeb6831 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24412290
"[The classic form of RTT involves mutation in MECP2 while the involvement of CDKL5 and FOXG1 genes has been identified in atypical RTT phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb7f03c11a765b9ce7caf4d13ad90e816 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20348192
"[A total of 27 female subjects (age, M +/- SD: 12.6 +/- 5.9 y; age range: 3-32 y) with gene-encoding, methyl-CpG-binding-protein-2-mutation-confirmed RS underwent high-resolution CT (HRCT) scans of the thorax.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4902389ca4ad0cec0933d98408a980c3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/20504995
"[The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe8ed898f66fa0b007440dfc03ff50cd5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/23908158
"[Their analysis showed that homeostatic regulation of MeCP2 gene is necessary for normal CNS functioning and that multiple complex pathways involving different neuronal and glial cell types are disrupted in RTT models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN394c3184a22096251127a3f6ae1d287a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/18223199
"[However, as the brain of a Rett girl contains a mosaic of MeCP2 expressing and non-expressing neurons, and the over-expression of MeCP2 in neurons can induce a severe progressive neurological phenotype, testing whether functional rescue can be achieved by gene re-introduction strategies in a female model of Rett syndrome is warranted.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN786727002a7a6250b6d970b9aa5a0f46 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/14649549
"[The regulation of MeCP2 abundance is related to human brain development, being expressed in neurons when they appear mature/the Rett syndrome brain, fewer neurons express MeCP2 than in the normal brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5bf38fc13de0182a258cd63e630e4021 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22192257
"[Because of its monogenetic characteristic, disruption of Mecp2 is readily recapitulated in mice to produce a prominent RTT-like phenotype and provide an excellent platform for understanding the pathogenesis of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN18d8cedbbc8277a74b2cc1c2405c82f2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19710912
"[They have utility to study MeCP2 isoform-specific functions in vitro, and are effective gene therapy vectors for rescuing dendritic maturation of neurons in an ex vivo model of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN40b64af97b36337e24a9a4f33baaaf99 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22119903
"[The age-dependent development of event-related neuronal responses was disrupted by MeCP2 mutation, suggesting that impaired neuronal circuitry underlies the pathogenesis of RTT and that assessment of event-related potentials (ERPs) may serve as a biomarker for RTT and treatment evaluation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc260934fed0adc33efe981f10e261aeb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16670375
"[Mutations within the MeCP2 gene have been found to cause Rett syndrome, a disorder of arrested neuronal development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2a019f943addd5a25a1da4d0095ce127 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26148505
"[MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa34c962684430c8c388a9ab4fa4350d1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21316312
"[Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa376713c25baad85ab996ce4f1daa2a2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17433737
"[Seizures in Rett syndrome: an overview from a one-year calendar study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6f32ab50c14123bdd95c006ea2f6dc3d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19319913
"[MeCP2 post-translational regulation through PEST domains: two novel hypotheses: potential relevance and implications for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf9d1819259dceefbe09f0b5df49f153c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15548931
"[The neurobiologic role of the MECP2 gene in Rett syndrome and normal development has been greatly elucidated with the development of animal models of Rett syndrome and the study of MECP2 in humans and rodents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcd5ab9611d8a7886aba2ebeea8390aa9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12460263
"[We advise MECP2 examination in AS patients of unknown genetic etiology whose EEG examinations are/were pathognomonic for AS to exclude RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3eaf059176d7cd77fa93df639bcb5b8e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11376997
"[An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1b74d21b9c052c80e907c87933d0259e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12567420
"[Mutation analysis of the MECP2 gene in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN337567cea050da04cc7b9a49f37d2b8b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18184939
"[X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN62acc0370e02b18ec2a80dca1bd1cb6a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21154482
"[Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN99a079480692870872dfc2736112ca67 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11241840
"[Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe8b783c76c3d4cb9b195bd0ce4cd3a6a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15228575
"[Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause Rett syndrome in up to 80% of classical cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN421e504d38c38b2e3141d96db912efb0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12161600
"[MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN74bca6c0d9eba9f8e2219500ed64e224 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24528171
"[The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNab3ca184fcd2a72ee044735e61206e33 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738843
"[Recently, DNA mutations in the methyl-CpG binding protein 2, mapped to Xq28, have been identified in some patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3e261b2e54f8c7bc3eb4abb1046f62f7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/15115765
"[X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0f5f62388213c60c495fda33d9145404 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/21840716
"[Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNba8839ad80fd375b1d1dd95c12f775f2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/16932552
"[Initial hypotheses indicating that the MeCP2 protein acts as a genome-wide transcriptional repressor were not confirmed by global gene expression studies in various tissues of individuals with RTT and mouse models of MeCP2 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3ebd3694d7ba3e5053c64f7c9384a1c3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21733672
"[We review recent progress in this area, focusing on two examples of mouse models of autism spectrum disorders (ASDs): Mecp2 models of Rett syndrome, and a Met-knockout model of non-syndromic forms of autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN94271bbc2d59b86d718de288fd0d1a13 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24594195
"[Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN404b8214b5edb25fbd19fb9edad07337 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11242118
"[Mecp2 deficiency in these neurons is sufficient to cause neuronal dysfunction with symptomatic manifestation similar to Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc0af096268609ee35542fc8d93a5e177 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23820068
"[Here, we review recent findings concerning a representative group of XLID proteins: the fragile X mental retardation protein; methyl-CpG-binding protein 2 and cyclin-dependent kinase-like 5 proteins, which are involved in Rett syndrome; the intracellular signaling molecules of the Rho guanosine triphosphatases family; and the class of cell adhesion molecules.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN99f3b35d23f995dc67ab88630cc01a8a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21731748
"[MeCP2 is a CpG methyl binding protein which has been associated with a number of cancers and developmental disorders, particularly Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNde80e2fa0c705c916f9e118458b12cb5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11913567
"[Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN04e3b20ac2062ddea7235f959f9e5422 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24615633
"[Rett syndrome and MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN34014d3e31b9d701bdd8ddec17d97490 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/20569274
"[Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4e8fbfde31eab64508fa3865635e11db http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25076025
"[Regulation mechanism and research progress of MeCP2 in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa18e0d007f9658c49b5a633491b4e042 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25209898
"[We conclude that Tubastatin A is capable of counteracting the microtubule defects observed in MeCP2-deficient cells, which could in turn lead to the restoration of molecular trafficking along the microtubules and thus could be a potentially new therapeutic option for RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc2a7abc2427355f1a9017d27a00ca0be http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22525157
"[Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including disturbances in motor function and abnormal patterns of breathing, accompanied by structural defects in central motor areas and the brainstem.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2793526e6196838d55d903d149d74b67 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24129406
"[In addition, RTT models using human induced pluripotent stem cells derived from RTT patients (RTT-iPSCs) provide novel resources to elucidate the regulatory mechanism of MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4dfec64aec415b9944d746aec6ad295f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11738839
"[The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN63771d9fef2b75251b5409d1ffd87a36 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22781840
"[This review highlights the functional role of MeCP2 in the brain as a regulator of synaptic and neuronal plasticity as well as its etiological role in the development of Rett syndrome and MECP2 duplication syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN593f88f5f3973e140744af37c12e1dca http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15954098
"[Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6bba1c62eabaf4d3d9a91441ae5c12e0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12160743
"[Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf45e3e7d243bd7d59e79754cf6322bc0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23611944
"[Overall, our findings indicate that the transcriptional dysregulation of lncRNAs upon Mecp2 loss contributes to the neurological phenotype of Rett syndrome and highlights the complex interaction between ncRNAs and coding-RNAs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNabe50718c44cc730e81b8daf8a30ced8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19190538
"[Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa7f2821aeab3d2be1a6d8a695ca8f522 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19900619
"[With the development of new technologies, deciphering the role of MeCP2 on a genome-wide scale is important for understanding of the RTT disease mechanisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNadf8b8319f5c4a396bb837cf81bc290d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11245712
"[MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN00bf497a2d679901246cfc166e01f609 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12928486
"[This review will focus on experiments addressing the basic properties of MeCP2 and on mouse models of Rett syndrome that are starting to yield insights into this condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN89188b42bde1ae507b4d4a89bf2e9798 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16647848
"[MeCP2 dysfunction in Rett syndrome and related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8b220bc09313062d65f14f12205c5be5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12640384
"[This checklist provides a simple aid for deciding whether or not a genetic test for RTT should be performed with only a minimal risk of missing girls with MECP2-positive results.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN40b093d24aa3193d9c05dfa23da3d60e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/27064487
"[Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2a0e911ad71bec6282799ab77de183a9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25708779
"[High circulating levels of oxidative stress markers in patients and the occurrence of oxidative brain damage in MeCP2-deficient mouse models suggest the involvement of oxidative stress in RTT pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4140f5c856e1b41c957420b4f8914be6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24009314
"[While encouraging for prospective gene replacement treatments, it remains unclear whether additional Rett syndrome co-morbidities recapitulated in Mecp2-deficient mice will be similarly responsive to the delayed reintroduction of functional Mecp2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN01e0afc6a22ac9cfd72269351cd76d9f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16844334
"[MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2edda7d84f51819ac4d7c638435a4add http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738863
"[We analyzed the MECP2 gene in three sporadic Japanese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3059bbdbe1adbff3aedf8949520e5815 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12966522
"[Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3a46ab3997f5a0be94d9f876d6907cc5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26471937
"[By using multiplex Luminex technology, a panel of 27 cytokines and chemokines was evaluated in serum from 10 RTT patients with confirmed diagnosis of MECP2 mutation (typical RTT), 12 children affected by classic autistic disorder and 8 control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9608766168c20bd5ccc57bd1d2abfebc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16940240
"[Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched controls (ages 2-7 y).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6abc5085e18c15b7f97a35ba5d74de19 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11432961
"[Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6acb883750074f417e12be827efcf75d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10577905
"[Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN970f9e3a6f7a4f89b11926bd96e8f67a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738879
"[The patient presented here was clinically diagnosed with RTT at the age of 66 years and now the presence of one of the common missense mutations in MECP2 has been demonstrated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb214725ce0d653a1c3b566637c86c40d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10767337
"[Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0634e7077c824b48e0dd5ab2b9c86e45 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15057977
"[Phenotypic manifestations of mutations in MECP2 were evaluated in classical and atypical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1f0d139e27f2bef1a983814688857bd8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14974082
"[Fifteen large deletions found in a deletion prone region in MECP2 in 130 female Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2ac79ecb126acae0eb8a7b9f388c472f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738884
"[MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8c5ab42771e43fafc87fd27bb1b5518a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17084570
"[Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa4fbbb237a4289f1be8004fbd3c06dbc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11309367
"[Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa845d7034e3a79294b06053b7e45478d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077729
"[p.R270X MECP2 mutation and mortality in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd19655a8f0f31ba45cb9d5c207a3f2ac http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11592853
"[The identification of mutations in the transcriptional repressor methyl-CpG-binding protein 2 (MECP2) gene in Rett Syndrome (RTT) suggests that an inappropriate release of transcriptional silencing may give rise to RTT neuropathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf0b2bbfef0613773450e7f27c2b0dd87 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16122633
"[Classic Rett syndrome in a boy with R133C mutation of MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN164e6893681f81b5eb6e19478dda7ed0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10577905
"[Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6c85c75fe59e7b68da6911d5a5fe00e4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10745042
"[A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9f6cd3265b06b5e4f30bb86e708ec92e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12081720
"[Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd379d451159d98864e5c00c18038d140 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15814190
"[Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd6a7712bde869973553dde6ba8d517ea http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11241840
"[Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfa0712c9da45e6263feb4d51db567f68 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16086395
"[We conclude that only a subgroup of girls with possible RTT and no detectable mutation in the sequencing of the MECP2 gene do really have classical RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN37891d6debf5df371a31608717f7d7ee http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11571704
"[Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN599948b55cace0d325160174e7e995b9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738861
"[Males who have MECP2 mutations and Klinefelter syndrome or who are mosaic for the mutation are more likely to present with a RTT-like phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN97bd7c885178945418effbff53c3cd26 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22331013
"[We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1214918c490a5584f6091cf095a84ddc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12111643
"[MECP2 gene mutation analysis in Chinese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf7829bbd2ece05f9af914b603256b9c0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16183801
"[We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3ab2eadccdba7d99017f00118f5549a6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16613900
"[We set out to identify long-range cis-regulatory sequences that differentially regulate MECP2 transcription and, when mutated, may contribute to the pathogenesis of RTT, autism or X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN93f12ecf79b0fae5cf935c32cd588731 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11269512
"[Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb3e7d6fed513643737a7f1cb5ea00448 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25862735
"[Rett syndrome is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe35ac18febb78f158d47854851d52f77 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15967618
"[Methyl-CpG binding protein 2 gene (MECP2), the gene implicated in Rett syndrome, was also reported to be involved in mental retardation and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1b44fd3c16027ab7d7a5a5f4717cf085 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14529314
"[Mutations in the MECP2 gene are involved in a broad spectrum of phenotypes from classical Rett syndrome to mild intellectual difficulties in females and neonatal encephalopathy in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN34742e020432381134784cf02610eead http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26006105
"[This study highlights a possible common denominator between two different RTT variants (MECP2 and CDKL5) and a possible common future therapeutic target.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6922b3618c45743b4180e67e258e3cb2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17278996
"[Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN79ed3fcb03429d21838c51e6a2a16bce http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10944854
"[Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN90b073ee3ad6689721cf95eec0d07635 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19428276
"[Classic Rett Syndrome (RS) is a neurodevelopmental disorder due to mutations in the MECP2 gene in Xq28.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN97b47d465279dda03ee7d09fd50e0913 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23921973
"[Brief report: MECP2 mutations in people without Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN148830301bc8bf2dc45623ef92375fcc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18203756
"[DNA methylation is also involved in synaptic plasticity since methyl CpG-binding protein 2 (MeCP2) is mutated in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN17791310669be4cad4ba4a0fa6da960e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18842453
"[Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN68cc655ea1eb5e5f0302a4be68760bc3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12707946
"[conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a history of Preserved Speech Variant of Rett syndrome/mutations are not found in patients in which autism remains stable over the years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc9f282bd65c67e88da8a83779b225741 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10991689
"[Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1e0d5c8cc7d5001d431bd402fd9bf80c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18310203
"[Early determinants of fractures in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6d8162b2c0c1e0ab1fbef98cd0cdf048 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15121991
"[Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe11afe86c2ad4316a5fe89faf9bb54cc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21385260
"[Eighty MECP2 mutation-positive girls with RTT (aged 1.6-14.9 years) were administered: (1) the Screen for Social Interaction (SSI), a measure of autistic behaviour suited for individuals with severe communication and motor impairment; (2) the Rett Syndrome Behaviour Questionnaire (RSBQ), covering a wide range of abnormal behaviours in RTT; (3) the Vineland Adaptive Behavior Scales (VABS); and (4) a modified version of the Rett Syndrome Severity Scale (RSSS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN129ea7614036040ed506eaa14bbbe25c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19133691
"[RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2ea2fdc8a87763253f5d16c5dddab9de http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26040005
"[In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNef0b49259f85eb2c7a6957a504509294 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11247014
"[Recently, mutations in the MECP2 gene encoding X-linked methyl-CpG-binding-protein 2 have been identified in some females with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN327fa9cc7e17d58a19c8155908004682 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14618241
"[A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5e9e739c045c5905de612486cc0fef5d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25902482
"[Mutations in MECP2, encoding the epigenetic regulator methyl-CpG-binding protein 2, are the predominant cause of Rett syndrome, a disease characterized by both neurological symptoms and systemic abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6bb7fe71df447ab753f1208f4d807c02 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18631120
"[Mutations in the human MECP2 gene cause the autism spectrum disorder Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN84f08484ca4f68a76e92557e5462a480 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18688080
"[Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN92e3ffdc79e0a646aa5cb55e1293d535 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11453972
"[Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7656436f08899fa3347e4d8e8dd9d120 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11055898
"[Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene:identification of several novel mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8a9b1396496f6e69580d3cccbce7d371 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21636779
"[Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf65e6eb034bb5a9fd24fd9c30a8bfedf http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22877836
"[Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe3a3f22ca99fce3a44a27b4292b3a66b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19562714
"[One example is the MECP2 gene on the X chromosome; using 5'RACE and RT-PCR in human tissues and cell lines, we have found more than 70 novel exons (RACEfrags) connecting to at least one annotated exon.. We sequenced all MECP2-connected exons and flanking sequences in 3 groups: 46 patients with the Rett syndrome and without mutations in the currently annotated exons of the MECP2 and CDKL5 genes; 32 patients with the Rett syndrome and identified mutations in the MECP2 gene; 100 control individuals from the same geoethnic group.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfb5184840c5f91df83c25452a9124078 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077736
"[MECP2 mutation screening of Rett syndrome/with early onset of regression & seizures, those with clinical features that might indicate alternative aetiologies, were less likely to have mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN32fbde7d13bc17a124b9879913d31f28 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17486180
"[Methyl CpG binding protein 2 (MeCP2) selectively binds to methylated DNA and mutations in the MECP2 cause the autism-spectrum neurodevelopmental disorder Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6779ee080d10b812665253cad13e41b0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23009927
"[Oxidative damage has been reported in Rett syndrome (RTT), a pervasive development disorder mainly caused up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8a60813c13bbd26ae8f9e2512dfbc388 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25424712
"[Individuals with phenotypes suggestive of RTT are typically screened for variants in MECP2 and then subsequently the other genes dependent on the specific phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa43989bad43a6c943e457ab088bb64a5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24050745
"[Mutations in the gene encoding the transcriptional regulator methyl-CpG-binding protein 2 (MECP2), located on the X chromosome, have been confirmed in more than 95% of individuals meeting diagnostic criteria for classical RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbd4ba23ee7a3e491caad83a1ecc495dc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16183801
"[Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN00e37a5e68e49d447616afd8bca2a76c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22615490
"[Mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) lead to disrupted neuronal function and can cause the neurodevelopmental disorder Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN25c57fd4cbc7ea4a4cfb585f7a6c15b5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10602120
"[Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5e7c5ff22848df169ed171c3c631bd21 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21593744
"[MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8046de04c31498507575f036ca53b645 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12027529
"[Furthermore, it has been demonstrated that Rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0dfe8c844fe00a2539a0f48d31c578d5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16647997
"[the great majority of French patients with Rett syndrome have a MECP2 mutation]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN112d10d9b6ae10de414b759ec644e746 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16015284
"[We have screened the CDKL5 gene in 94 patients with RTT or a RTT-like phenotype who had tested negative for MECP2 mutations (13 classical RTT female subjects, 25 atypical RTT female subjects, 40 RTT-like female and 16 RTT-like male subjects; 33 of the patients had early onset seizures).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2bdf2a1e0f69e061d90583b89f29cd81 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11755104
"[No deletion were found in our group, suggesting that MECP2 gross rearrangements are a rare cause of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1aeb061d1de3b4f1bd987fc04ad03e74 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26942018
"[Attempts to reverse the effects of Rett Syndrome need to take into account the developmental dynamics and temporal impact of MeCP2 loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3e338956c378a7bc4ca27a7022da8b1f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22998673
"[Diagnostic criteria have been modified only slightly over time, even after discovering that MECP2 gene alterations are present in >90% of patients with typical Rett syndrome but only in 50-70% of atypical cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4272a19891f9ea46ecb993caef26f92b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12966522
"[Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb32190adf5e044072ff84d8447ec0dfb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18499664
"[Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN268892ba5f82b85d36fb7684ae02a25e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23400946
"[Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6d9a183d77a4c2766c234b29ea190bea http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17684768
"[The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8aa2d14926e0c6963b9ff4af76227d88 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22182064
"[What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN872160b683fb394bbdf3e9fc3ad7f3e2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20031356
"[Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN94fc5ed9f980c339dd66eea14fc59c63 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17089071
"[Identification of 45 different MECP2 mutations in 102 Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdaa0f6ffe70ec2589dd01e7706deb49d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24564546
"[Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf238d7bb3d08343bb6cbdacd2880aa24 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12707946
"[Study of MECP2 gene in Rett syndrome variants and autistic girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN885d7bb052cbbae61ad7c6b9842a508f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/20420693
"[Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc7c8ec62bc34d9363b07c39a4935e9d4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/17635839
"[Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf2129a0aa4d6006504487b18e3115ad8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/12770674
"[These data provide additional evidence of variable expression in the Rett disorder phenotype and suggest MeCP2 testing may be warranted for females presenting with autistic disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNaebb82b09c67ea3ce8fb681d2013bc19 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/12545250
"[Acquired elevated MeCP2 expression in neurons beginning in infancy and progressing through childhood may explain the delayed onset and developmental arrest of Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc4599ba8e1d42091415ae63f3943778f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/19000991
"[Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN307c3e324b5fd1ed06960e7caf9c84f3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/ORPHANET http://semanticscience.org/resource/SIO_001344
http://rdf.disgenet.org/resource/gda/DGN6f79fac3c258618a40d547645d456191 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23892605
"[A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0237fcff50690318464710fb88c1594b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21383316
"[Using FISH, linear amplification, and array CGH, we identified a 126-kb duplicated region from 19p13.3 inserted into MECP2 at Xq28 in a patient with symptoms of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0c0514bbcee9cdde1b7efce9725b4cd0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18989701
"[a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2d60b474e7e2ace9d7af16bacfb62444 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21307341
"[Given that Kir4.1 and Kir5.1 subunits are also expressed in brain stem respiration-related areas, the Kir4.1 overexpression may not allow CO(2) to be detected until hypercapnia becomes severe, leading to periodical hyper- and hypoventilation in Mecp2-null mice and, perhaps, in people with RTT as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN577805ab6212228a0e0ffa9a747d998e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12081725
"[screening of MECP2 gene mutations in Swedish Rett Syndrome clusters]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN831318f7eaa54dc281d2e4d8ebf92392 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17383248
"[Mutations of the MECP2 (methyl-CpG-binding protein) gene mainly cause Rett syndrome but were also shown to be involved in mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN93b8fb83c5ebaee642cbf49599978dea http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19189931
"[Four methyl-CpG-binding protein 2 gene mutations were found: 2 in 4 girls with Rett disorder, the others in 2 girls with mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcc8d5836c8d0a0518112b18d4089621e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10986043
"[Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf203d4e02999d57d1af700ede78a3175 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15712379
"[The results from this study indicate that large deletions in MECP2 cause classic RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNed91ff4c239d1ad3628c24ed4a4a842e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12655490
"[Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfa18c537be49cbae32fb5f6c5cffadbc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23185431
"[Rett Syndrome (RTT) is a severe neurological disorder in young females, and is caused by mutations in the X-linked MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2639e46d7cbb93961687b378c2ed4421 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20376788
"[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN09dcbca9fd4c3f9da771335acd4f3e0f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12030010
"[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2aa2540f486f84a9668b5f1cdfc2235a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23723037
"[RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X-linked MECP2 gene encoding methyl-CpG-binding protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN41e29b9b08471f2f220f49d21e10face http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19309283
"[A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb3da7bb10d3d3d697e17e51546ce0fa1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26073556
"[Mutations in MeCP2 lead to disrupted neuronal function and can cause Rett syndrome (RTT), a neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd8414641c225988cb21b392126269bfd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23226951
"[Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNec43952e2ac1e779ba6891d9ffb660d0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12325033
"[MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd11f06ff7a819b293321c1b9c86d3e61 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19774457
"[Impaired methylation and mutations of mecp2 have been associated with autistic spectrum disorders, and related Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe34fc4b6e0938b88f13118fd9045956f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15689352
"[Rett syndrome (RTT), caused by mutations in MECP2 (encoding methyl CpG binding protein 2), and Angelman syndrome (AS), caused by maternal deficiency of chromosome 15q11-13, are autism-spectrum neurodevelopmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN252b07095ac981a289d5b72777e453a6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15526954
"[Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN364349501769969bb9e0e4d19e5ff54a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17968969
"[MECP2 deletions and genotype-phenotype correlation in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6b98de136b41b8ebb92a29953fdf4788 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15275701
"[Despite the identification of mutations in the methyl CpG binding protein 2 gene, the pathogenesis of Rett syndrome (RS) is still unknown.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7872c32bc1ed26e1bdd77cbc300eafa6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25385366
"[Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN821e9f321a9f465cd769db26c44577a7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21575601
"[Rett syndrome is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNde14c13be5fe9cc27fc3ad9dd2e45602 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25905808
"[A recent study by Gabel et al.(2015) found that Mecp2, the gene mutated in Rett syndrome, represses long (> 100 kb) genes associated with neuronal physiology and connectivity by binding to methylated CA sites in DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe4764a85022cdfa03c4f737ad18d7c8b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20631224
"[Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3ff15b847ce129502b6faf2bf8c63a92 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19722030
"[Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN802bd61752ee78873c69eb9fd97b637c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25124696
"[Mutations in MECP2 gene have been associated with the onset of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8ac1831e1e4ee225a476fc6bd9c2d5d7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20116947
"[Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb55fd13a536af1b3898dcdb689b09364 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12495959
"[Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdf48fbc9b7580ba3a5aa0b1034bb5e93 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20298210
"[Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5a4d1e639e92af940cd2fe5c698f7213 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16932552
"[Rett syndrome is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN618d75589c4b2dd19caae315f234970d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19034540
"[The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7010c1681d5337e9e5f5025252d17eda http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18190595
"[Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc3346ab79c5f949d8719d8af33cf3ec0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738872
"[Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcbe79bb462a37672ae4319da5465e4ce http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18174559
"[Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdb8a1daca027c282a43e266d19b078d9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24970834
"[To understand which MeCP2 functions cause toxicity in the duplication syndrome, we generated mouse models expressing endogenous Mecp2 along with a RTT-causing mutation in either the methyl-CpG binding domain (MBD) or the transcriptional repression domain (TRD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe80973b0a5eb040de7b222952ec1e3c8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14598336
"[In Rett syndrome (RTT), an X-linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to be mutated in the Methyl-CpG binding protein 2 gene (MECP2) that maps at Xq28.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN204d8c40fbe36e180f67f8b86dc052d3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22174313
"[Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN53c83e66c3ef83223481baedb75861af http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24094325
"[Rett syndrome (RTT) is caused by mutations of MECP2, a methyl CpG binding protein thought to act as a global transcriptional repressor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN696e1f2eb8df782a9a4e3fd43f53247c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12449561
"[MECP2 gene mutation is implicated in Rett's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc5627d09aeffb8b462c4e065b280ad75 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17988628
"[The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor involved in chromatin remodeling and the modulation of RNA splicing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb9572d7604ae0beb23b1f0a96b0af42f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11283202
"[RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc74a26b8fcb195b5914e9aa7bff91175 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21085180
"[Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcda447ab313b8a8365cecd33a736582d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19133691
"[Rett syndrome and long-term disorder profile.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5424552f6f02af26c1be2a43df41b2aa http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738859
"[With the recent identification of MECP2 mutations in Rett syndrome it is quite likely that genetic factors not only play a major role in brain development but may also influence other organ growth including bone formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4711248204f3eaddd09cb68296b4d830 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20345957
"[Our novel assessment of hand function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5c87cba1ee7d28df533ac89f94770599 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15578576
"[From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN84f69ed28a26a15579f53d5b69375021 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10944854
"[Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc2651dabdb92a5233eac8d1c5272b4fd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21831886
"[We propose that different interactions of MeCP2 with methyl cytosines, DNA and likely other heterochromatin proteins are required for MeCP2 function and their dysfunction lead to Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8f1740fc066b7bfb74208244ffd61196 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/14734626
"[These results suggest that multiple pathways regulate the complex developmental expression of MeCP2 and are defective in autism-spectrum disorders in addition to RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7237185a2b569fbac045a4c4422a2bd4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/24642514
"[Although MeCP2 is expressed near ubiquitously, the primary pathophysiology of Rett syndrome stems from impairments of nervous system function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN34d61813d899719992c9be277e8cc1d5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/19217433
"[Surprisingly, overexpression of wt MECP2 also increased BDNF levels, while overexpression of RTT-associated MECP2 mutants failed to affect BDNF levels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe5eaf593fa1e14dfe1e12740875bc63e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/17237885
"[This approach provided a "metabolic window" to brain characteristics in Mecp2-null mice (n = 4), revealing (i) the first metabolic evidence of astrocyte involvement in RS (decreased levels of the astrocyte marker, myo-inositol, vs. wild-type mice; p = 0.034); (ii) reduced choline phospholipid turnover in Mecp2-null vs. wild-type mice, implying a diminished potential of cells to grow, paralleled by globally reduced brain size and perturbed osmoregulation; (iii) alterations of the platelet activating factor (PAF) cycle in Mecp2-null mouse brains, where PAF is a bioactive lipid acting on neuronal growth, glutamate exocytosis and other processes; and (iv) changes in glutamine/glutamate ratios (p = 0.034) in Mecp2-null mouse brains potentially indicating altered neurotransmitter recycling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN05d2893067dd04f71394935cf7d54749 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11738845
"[Now MeCP2 is the focus of research into the neuropathology of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4f71845193a9cfdb65f37bdf670a45b1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26808898
"[Although Mecp2-null mice recapitulate most developmental and behavioural defects seen in patients with Rett syndrome, it has been difficult to identify autism-like behaviours in the mouse model of MeCP2 overexpression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8cbf391117de53939e394d75293d15a3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17965611
"[MeCP2 and parental imprinting has unfolded with interesting twists, revealing new insights on the function of MeCP2 in Rett syndrome.[ REVIEW]]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0ce4bd24bec8056c8b4801baf7a3f423 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23810759
"[In conclusion, i) MECP2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) MECP2 must be studied not only in patients with classical/atypical Rett syndrome but also in patients with other phenotypes related to Rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN96c76f5b75c5d276598232bf2dd18f90 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/20098342
"[The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbe279cb73dd9febf8f42eea4484a1cc5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17701895
"[The conclusion that DLX5 is a direct target of MeCP2 has implications for research on the molecular bases of Rett syndrome, autism, and genomic imprinting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1361f140d703c0d82ec35b944a358015 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21326358
"[We specifically focused on MeCP2's role in Rett syndrome, a neurological disorder associated with specific MeCP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd20a8e56eccdf5c32a3f5d0089f2d744 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23938294
"[MeCP2: making sense of missense in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5396096c57ad1687697fa08800553e15 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26806603
"[We treated MeCP2-null mice from postnatal-day 28 for two weeks with desipramine, already tested in RTT, or mirtazapine, an antidepressant with limited side-effects, known to promote GABA release.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7f4c3482adafbd5f1e42e833046226d9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23622180
"[Two genes, ARX (X-LAG; Partington syndrome) and MECP2 (Rett syndrome in females; mild MR with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd9a6dbc3c09b7746c4e66db2f175def6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17309881
"[FXYD1 is therefore a MeCP2 target gene whose de-repression may directly contribute to RTT neuronal pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN379ea17100add90dcc0f2f44037c4998 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/10814718
"[Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf5085b4f69f6c4c43c6f15a25b3e6fe1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21372149
"[Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN391656740294065ff1bed66cb734c535 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/14649549
"[Survey of MeCP2 in the Rett syndrome and the non-Rett syndrome brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2386628008b63bbcec2409f74c04f558 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21330301
"[Given the important function of MeCP2 in neuronal development, our data could shed light on how MeCP2 deficiency affects postnatal brain functions and the dynamic changes in the neurological symptoms of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN007838566533762a4be8b16736e7c94f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/MGD http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/gda/DGN24b0b35c16f9943f40699bff49e9b421 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17881312
"[Homozygosity for MECP2 gene is associated with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3a8c95a57f17a2749af39469253e951c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21276437
"[4HNE-PAs levels were increased in MeCP2- and CDKL5-related RTT but not in FOXG1-related RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd06b1ceeec56649c2d60e9f8bb605e0f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25914188
"[Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc9bfa0a9f058a0cdbba53e63a99ba3e6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22976001
"[Our investigation suggests that global piRNA levels may be elevated in the Mecp2 knockout mouse cerebellum and strongly supports further investigation of piRNAs in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN478b277e00b565dc2e83984f8cff1588 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11955928
"[Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe2eb45316f7d771a5be9ec8a4391bbff http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/10805343
"[The association of early truncating mutations with nonrandom XCI, along with the fact that chimeric mice lacking methyl-CpG-binding protein 2 (MeCP2) function die during embryogenesis, supports the notion that RTT is caused by partial loss of MeCP2 function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3318bc61e05a16a866e72f660cb8bb54 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17317146
"[MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5596b338740f37d28a8dbc0fa05ba502 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15757975
"[MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6679d0d454865833a3ad51f30eb8dd64 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/20491871
"[Early epileptic variant had severe seizure types in the first year of life, followed by a typical RTT picture; all were MECP2 negative.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf07a67d15b4a7858a03736345a116091 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26278631
"[The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe4d7515d9fe41a1d5e2d9e988b810451 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19559301
"[A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf9be6995f045f197c7888f76b54d2849 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26456390
"[Disruption of MeCP2 attenuates circadian rhythm in CRISPR/Cas9-based Rett syndrome model mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0b60c3d1511865d7891554ca8280e165 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15070486
"[A variety of in vivo and in vitro models has been developed that allow analysis of MeCP2 function and pathogenic studies of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN07034ebbe32b395de40614eafbaa2d7d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16225826
"[In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN103e51d3b0017286ed33c64a7e7b48f7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11738865
"[Although mutational analyses of MECP2 in Rett syndrome have been extensively analyzed, the mechanism(s) by which variable clinical phenotype occurred between affected monozygotic twins or sisters have not been clarified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9a59006fdae33a02ef0feac9ce961a9a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19386901
"[Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1f336a6c4a87e529d6e4efae379cb3e3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24671107
"[Beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical Rett syndrome (RTT) and methyl CpG binding protein 2 (MECP2) gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2ff349b74257ba041e442460c25efd58 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12180070
"[Spectrum of MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2e858e0747884dfeead14d377d233184 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11055898
"[Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4d58c218bb6ef500b30f681764e7f74c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18434641
"[The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5f23593329b851677baf7717cf1207d0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17172942
"[Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6f693bf109867902f2adcc906cbdfe6e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16446133
"[Rett syndrome (RTT) is an X-linked postnatal neurodevelopmental disorder, which is primarily caused by mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8f69bb4b944c84e1b45c64a5aef34a35 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11913564
"[Rett syndrome: clinical manifestations in males with MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb91f8ed8537598f94a8f195fbdf63154 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18688080
"[Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc1a6619a69c2abafacc6e1bb37937dc7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22139899
"[Rett syndrome (RTT) is a rare neurodevelopmental disorder, linked to MECP2 gene mutations in the majority of cases, which results in severe disability and is associated with several comorbidities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc7b48edb2ea7511d7a49cdd5953c830d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20491871
"[Early epileptic variant had severe seizure types in the first year of life, followed by a typical RTT picture; all were MECP2 negative.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNce884905c40bbbe2bc00ce60c331cb35 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/27131828
"[The outcome measures were compared between RTT groups with different antiepileptic drugs (AED) and those with and without the MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN193e2bb9e94f8df11eb4cb23013646e5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20397747
"[In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5bc088c7118802953aad59b22a7a4918 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23468869
"[Although each pair of sisters had the same MECP2 (OMIM*300005) mutation and balanced X-inactivation, one individual from each pair could not speak or walk, and had a profound intellectual deficit (classical Rett syndrome), while the other individual could speak and walk, and had a moderate intellectual disability (Zappella variant).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7b6a7e50f23a2e05bb0552df533a1f73 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19958389
"[Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbf3ba89595aa432d148946d74fc1bd28 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16829352
"[Deleterious mutations in exon 1 of MECP2 in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf9f7869e1862d274e4d22d05b8d9de9d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18337588
"[Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN13d3d9c2fee0e4bec4228b0e58960b9f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17296936
"[Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2b1716ac7ba17eb4aa077e7262dc8928 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17684768
"[Females with Rhett syndrome with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc976319bbfe3dedabbf3d774bce59982 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15880509
"[We also describe the validation of a disease-specific SOP for DHPLC assisted mutation screening of the MECP2 gene associated with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe569f363262c5ed89384812d277e3268 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21812101
"[We describe a familial study with a brother-sister pair with symptoms of RTT and exhibiting distinct deletions in the MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN08ed1726ad0595d1460071cc42cd90a5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12673788
"[In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN95389d53f3d92eb51f8e1124f8905daa http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17420401
"[Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfbe554f53b5cc9ede87e5a0a3f139f78 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19371229
"[We suggest that a simple PCR can easily detect deletions in the hotspot CTS region of the MECP2 gene and can be used for routine molecular diagnostics of RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNec060d1b930454fc7e496bd8ce88b447 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/20682201
"[Ocular MECP2 protein expression in patients with and without Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1930ac7c3cfc3eefdd7fdaa7bd6ae1c5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15809268
"[MeCP2 in neurons: closing in on the causes of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb8b8768921e8ea1b3dff64c78676da25 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/24766768
"[Since the discovery of its fundamental involvement in Rett syndrome, methyl CpG binding protein 2 (MeCP2) has been the focus of an exhaustive biochemical and functional characterization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd95f282a2a2ca85988b2fcd1657eb155 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25192503
"[Disorders of the DNA methylation machinery include both the aforementioned "writers" and also the "readers" of the methyl mark, such as MeCP2, the cause of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN844939d8edf5650672f2fe0bfcb42b71 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19000991
"[Dysregulation of EGR2 and MeCP2 plays roles in in Rett syndrome and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNddf82b3ac21f93d85715bc7dcb0ef429 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26332183
"[Mecp2 heterozygous female mice and RTT patients exhibited a similar decrease in VEP amplitude that was most striking in the later stages of the disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9a2a826593ffa678f9424e483d1121f0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26237041
"[Instead, neuronal dysfunction can be reversed in a Rett syndrome mouse model if MeCP2 function is restored.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbf4afda6e2a785f58eaf2def0b2a6163 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23912219
"[A number of animal models with complete or partial lack of MeCP2 functions have been generated to correlate the clinical phenotype of Rett syndrome, and studies involving different mutations of MeCP2 have shown similar effects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe5375c6d569323980394460e239aaf0e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11376998
"[The diagnosis of RTT is clinically difficult before 3 years of age, especially in atypical cases, but molecular analysis of the MECP2 will assist diagnosis in some patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNceab76d3ef5aebc091bc5468f70883a4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12750821
"[However, conditional mouse mutants with selective loss of Mecp2 in the brain develop clinical manifestations similar to RTT, indicating that MECP2 is exclusively required for central nervous system function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN661f0f9547ce04b518b0f2692aeeaa98 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17339270
"[Our previous studies demonstrated that homologous 15q11-13 pairing in neurons was dependent on MeCP2 and was disrupted in RTT and autism cortex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8476e687569ff53e1f339157ae180a4e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23832106
"[In contrast, the Rett syndrome-associated protein, Methyl-CpG binding Protein 2 (MECP2) was barely expressed in these neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe401810e3dcbc89def92a5e38d2ca60f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15367913
"[Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0d834a70ad756bcd6fbe2b2a9449d1b6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23421866
"[Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2d817035b0c728ba0211d39109008ed7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11331619
"[MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN474917be4e15a282fda50bb86323b937 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15675358
"[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7272365e163f19211d56cd77f020b997 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12729148
"[Neither the type of hearing loss nor the presence of preserved speech seemed to be correlated with the type of mutation in methyl-CpG-binding protein 2 (MeCP2) gene that is associated with RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN71685abf654e896b8a80d1a779e60867 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19652677
"[Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8e1a19003d068f278d307b41884c5008 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17089071
"[MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNaa169abf83602ed710c0f7c5090f12d9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21160487
"[Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3c0194c1c41fb3834ab5b309fe540592 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16133181
"[Around 80% of Rett syndrome (RS) cases have a mutation or deletion within the coding sequence of the MeCP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9911ec7b3f9385d4c0ba5b7127b889dc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17986102
"[Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without'classic'mutations in this gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN90b2cfc14e6d3c7d005a2ef40212ee30 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12939425
"[Irrespective of the MECP2 genotype, 5MTHF transfer to the CNS is reduced in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa573d5cdadb205fbe13584867ede2d84 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22982301
"[The high rate of paternal origin of the mutated MECP2 gene may explain the high occurrence of RTT in female gender.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8125087c41008036770da98e1c6701f7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19921286
"[Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9c5ac7b1a59d2a989bb77ae7b31ba865 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18337588
"[Specific MECP2 mutations contribute significantly to the clinical variation in typical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN97962a9b21fc18bc00129992e0f970e9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16995837
"[To evaluate the applicability of the E-SC method for the detection of the heterozygous truncating mutation, PCR-amplified exon 7 of the StAR [steroidogenic acute regulatory protein; causative gene of the CAH (congenital lipoid adrenal hyperplasia)] and RT (reverse transcription)-PCR-amplified full-length cDNA of MeCP2 (methyl-CpG-binding protein 2; causative gene of Rett syndrome) were used.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe915b7e67916eb2370690e11b159dbea http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12640384
"[Indication for genetic testing: a checklist forRett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf5c27c918ac1d0a102f4596ba852ae7b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12325019
"[Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN13fbdd7d2d4db3f24f99e428699e52a9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19394452
"[Disorders of respiratory control are a prominent feature of Rett syndrome (RTT), a severely debilitating condition caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0b990c06c130fcfcc10310d95b7b76b3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20601296
"[A 17-year-old girl with a classical form of RTT with a heterozygous nonsense mutation in exon 3 in the MECP2-gene was treated in our hospital.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN233517e15475cdc91ceea3e857afdd03 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21888765
"[Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by mutations in the MeCP2 gene in the great majority of cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2d10d341c6ce4f402c593ee704f609b8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11706982
"[Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4158d1511133f941f5566514a053239a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16225173
"[Here, we study the impact of the presence versus the absence of the use of diagnostic criteria from the RDC to make a diagnosis of RTT on MECP2 mutation detection in Canadian patients diagnosed and suspected of having RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN963e6e0a8c22d67991fda7121c5c947e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11955928
"[MECP2 gene mutations in six Chinese females with Rett syndrome.reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7eef35d1821495c262dd94dd526b98cd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21695138
"[Our findings suggest that NB54 may induce restoration of the potentially functional MeCP2 in primary RTT fibroblasts and encourage further studies of NB54 and other rationally designed aminoglycoside derivatives as potential therapeutic agents for nonsense MECP2 mutations in RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9f19d38daea9e9f347abd8c1f24eedde http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22223404
"[Rett syndrome (RTT) is a neurodevelopmental disability characterized by mutations in the X-linked methyl-CpG-binding protein 2 located at the Xq28 region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf03e7164a7abdfe09292d62c6afa416d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20661168
"[Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf4daa042eb689c754b8fb52b2fd7d448 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12180070
"[Spectrum of MECP2 mutations in Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN01afd78fe435ebd4a004e66611747f98 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23612537
"[Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN29a43bf31e8a734b006bff60693efda1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25219940
"[Rett syndrome is a rare neurodevelopmental disorder usually affecting females, and is associated with a mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN28684dabebcf96cae070e300f71b17ca http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12107440
"[MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2a1841c0f6e641ad27981b21cdfea1bc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19002580
"[These findings indicate that the poor motor performance previously reported in the RS mutant mice is not associated with major brain lipid abnormalities and that most previous brain lipid abnormalities observed in RS patients were not observed in the Mecp2 (tm1.1Bird) or the Mecp2 (308/y) RS mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb7550f91eddb3245c5599d160e2ad093 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21300488
"[Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe98c33f798485eaf996714adafd59044 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14560307
"[MECP2 analysis in mentally retarded patients:implications for routine DNA diagnostics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN008f4ac0681985fe8f26da2a44e9754c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21212452
"[Of interest, we found a large deletion covering 2 exons in MECP2, which underlines the importance of MECP2 mutation screening even for the ''atypical'' early infantile onset variants of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN49ad743496f6ecae6654330efbfea991 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24703762
"[Mutation of the X-linked methyl CpG binding protein 2 (MECP2) has been first identified as the cause of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3d8089eb7964debe2d5f84b2848ca9ee http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17026625
"[Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4f6b751dc71cf1c47e658314dedbd4c9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19189931
"[Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd7cf64a66941df12456c1c6ff612d157 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11469283
"[MECP2 mutation screening in Swedish classical Rett syndrome females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd6815e9adb7aa995703745d8bd397345 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20098342
"[The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNece86fceae6e36d2738b025f35d8b113 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17965611
"[Methyl CpG binding protein 2 (MeCP2) selectively binds to methylated DNA and mutations in the MECP2 cause the autism-spectrum neurodevelopmental disorder Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN35ada1c69ba12ca43be418aea19c402f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19562714
"[Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6131b2dedf29a18408e730dc48c602e9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22277191
"[In this study we summarize the results of diagnostic testing of 30 patients with Rett syndrome (RTT) or mental retardation of unknown etiology using bidirectional sequencing of the open reading frame of the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe967d8511fd5ab10b011deb8b2daf02c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/27465203
"[Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf31c2cfdea37de763586703777e34299 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12112734
"[The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN043268fe9b086916fc6af0a1e626b288 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15057977
"[Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN54e220d6732864cc42a45672b2602641 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19772971
"[Comparing survival in persons with RTT and identified MECP2 mutations and persons with unknown MECP2 status demonstrated greater mortality in the latter group (P < .0001, log-rank test).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN44be5510c9935e36f2a081e7386ac922 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18479749
"[RTT is associated with mutations in the X-linked gene encoding MeCP2, a transcriptional repressor that binds methylated DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5b75db8aa01a646c7d064c76bdc48ba9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16473305
"[Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7732f860277b7584b605c536f3f6bb4d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12210344
"[Given the correlation between balanced XCI and classic RTT, these results suggest that a certain percentage of neurons expressing the mutant MECP2 gene may be required for RTT to become manifest.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbd1cf14f3f7b670d41c0003c7aad2155 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10826991
"[Methyl-CpG-binding protein 2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd434f0e396d3d0c740b6dcab60a1a5a4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11524737
"[To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNee9a09f8d4046ae758d343c0704f92a6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11055898
"[Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN02e111c7afb824f1ad54682320ed51cb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/17562589
"[Decreased dendritic arborization is common to RS and autism, leading to further research on similarities in pathogenesis, including MeCP2 protein levels in autistic brains and MeCP2 effects on genes connected to autism, like DLX5 and genes on 15q11-13 region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN04f85755399be546b63b1185fc6c79e4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/21637127
"[Retrospective review of the medical records of 284 girls and women with RTT to determine serum 25-(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN29544a7ee45260cbcbc8c901fafc4f55 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/25147297
"[Application of BDNF can reverse hyperexcitability in acute brainstem slices from Mecp2-null mice, suggesting that therapies targeting BDNF or its receptor, TrkB, could be effective at acute reversal of respiratory abnormalities in RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN6c9347316f9cb98aa0232dba1fe743ee http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/17486179
"[A significant reduction in MeCP2 expression compared to age-matched controls was found in 11/14 autism (79%), 9/9 RTT (100%), 4/4 Angelman syndrome (100%), 3/4 Prader-Willi syndrome (75%), 3/5 Down syndrome (60%), and 2/2 attention deficit hyperactivity disorder (100%) frontal cortex samples.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN95e31906a73407075c498d19e49828cb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/19442733
"[Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa4ada01954cfcc2fad35df99d82df447 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/24150225
"[Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3b46b11413f3f2552f03099c48ea2ed8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21966470
"[These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2, and drug testing in RTT mice and clinical trials in human RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN690caf399d1132b5d71f4739770c1ab4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19000991
"[Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8a8c30fbffa4494efec5588003006201 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/22532851
"[Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd387aa6afc70da57cb483988b4752f49 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/19125863
"[The methyl-binding protein gene, MECP2, is a candidate for involvement in autism through its implication as a major causative factor in Rett syndrome that has similarities to autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd64e258e27916f946b26b5edd3f77a2e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/20425824
"[Linking MECP2 and pain sensitivity: the example of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN03572d568958e4cf8001172708ae82d5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15954098
"[DLX5 is a target for MeCP2, linking genomic imprinting and Rett syndrome [review]]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7b785ea0a77c18e6ddcdb589b372b74b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16199017
"[Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7bf99568bdf29f005ffe0b3b4ac7cd59 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/16116096
"[Our previous work has suggested that MeCP2 malfunction in neurons is the primary cause of RTT in the mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3fd1377554331bcf973f5b2fecf5a18e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21966470
"[These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2, and drug testing in RTT mice and clinical trials in human RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd868c18c3a5306a846aa6d7750a82a50 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26236424
"[In MECP2-RTT, decreased levels of IL-22 were observed, whereas increased IL-22 and T-reg cytokine levels were evidenced in CDKL5-RTT.Chemokines were unchanged.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4f37fa49fb69ec2cdab9f68f2fa084fb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/17584923
"[Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1890e9bb7f58242ef8a11f4e2be60172 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21654506
"[Eighteen female patients aged 3 to 25 years with clinically diagnosed typical RTT and MECP2 mutation at clinical Stages III or IV were studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN808593a151aad376682fac9b322c4feb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21530498
"[Plasma F?-NeuroPs levels were i) higher in RTT than in controls; ii) increased with the severity of neurological symptoms; iii) significantly elevated during the typical disease progression; iv) higher in MeCP2-nonsense as compared to missense mutation carriers; v) higher in typical RTT as compared to RTT variants; and vi) decreased in response to 12 months ?-3 PUFAs oral supplementation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN82487e12730f3d4b9dffa335d858206a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21764336
"[We used the British Isles Rett syndrome survey to identify 137 subjects with one of the nine most frequent MECP2 gene mutations and invited their parents or carers to participate in a postal questionnaire and telephone interview.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbf397d4e6c409999b3ea094a03f7f8f3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21825235
"[This review explores the commonalities and differences between autism and RTT at clinical and molecular levels with respect to current status and challenges for each, highlights recent findings from the Rare Disease Network Natural History study on RTT, and summarizes the broad range of phenotypes resulting from mutations in the methyl-CpG-binding protein 2 gene (MECP2), which is responsible for RTT in 95% of individuals with the disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf980687189edd2866fb22af4b385c356 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26064184
"[Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2d0a250986958cf19d88a66adbb8caa8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12075485
"[Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN33b84def7d3bbb999c5967ea4986f487 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11896459
"[a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf5cde8287cf7e98810a8f34059cac687 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22473088
"[Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN22ef5f57e721b59dedd73cdc032ac017 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17387578
"[Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7adf1fd9b0ce7546518d399a4522a1a9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19349604
"[In those with p.R168X, a commonly occurring MECP2 mutation in RTT, there was a 6-point increase in severity score for those who were heterozygous for the BDNF polymorphism, both unadjusted (p = 0.02) and adjusted for age (p = 0.03).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb583db10575e151e25909aa5dc809dab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17712354
"[Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc7cb59b74f489cd2b415318a56a26c2b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24040966
"[We discovered in the 5'-UTR (untranslated region) of MECP2 mRNA a highly conserved G-quadruplex which overlapped a known deletion in Rett syndrome patients with decreased levels of MeCP2 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf73d761a01dd6792c30eac4240cd4ee8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23392116
"[Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN37ff094094b31fe71ceddb3a439aa639 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16905679
"[Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN64a6fab2f44844c9515168eb0fb5a68a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26852508
"[A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN67a76e68b52719792cf93438f51ea711 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18313390
"[The MeCP2-DNA complex also identifies a unique structural role for T158, the residue most commonly mutated in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN791459e0ce03b6a03f10b147aa0bddc7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15704871
"[MECP2 gene mutations responsible for Rett syndrome have also been found in male patients with mental retardation, sometimes associated with different neurologic abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa222fb0bd37df3120fdfad4563f0750a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16225835
"[Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding protein 2 gene (MECP2) is highly sensitive and identifies mutations in up to 95% of female individuals with classic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf2e179a81457efdb858f0fcfbb35f16e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18572337
"[Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN05bdeff945d985afd8fb13c3e482154a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19914908
"[Updating the profile of C-terminal MECP2 deletions in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1e7ef86c4d95c756d857d83820856f93 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10508514
"[Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3bed30eaf73f8565842b4d03522a3b6a http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11768391
"[somatic mosaicism for a MECP2 mutation in females with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN73efefc88fd199d587ee1ca49750c8b8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23597512
"[Finally, we discuss the literature regarding alterations in BDNF levels in RTT individuals and MeCP2-based mouse models, as well as recent progress in searching for rational therapeutic interventions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN85f1d93dbe489cbe147387684c987073 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17440498
"[Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN91ee98f3db2c949192b5fc3a22c3116c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15549394
"[The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcf8fc43978121aff7704bdecb0139045 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15578581
"[Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd81eebbce61956100643262e0e8bbd61 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26418480
"[Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0ffd726be6d202517725fdeb2dee5774 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10852707
"[Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN805010a935f1059cc75b22aafa8677d8 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22190343
"[Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN839dd9482c4f97378101c9c2c5245be5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19309269
"[Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN914eaf1ae952b055ece0d76056613b80 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16879196
"[In the past few years, the role of MECP2 mutations in patients with mental disorders other than RTT has been studied, finding that mutations in MECP2 also contribute to non-syndromic entities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9df1c56a69f5e68569084206e3a88340 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17387578
"[Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNde2678e212121628d603083ffed29e82 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20425824
"[Linking MECP2 and pain sensitivity: the example of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN770727037e563ee6a5a32bf7616b684c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19752159
"[We analysed 185 females from three cohorts: 42 with Rett syndrome who were negative for MECP2 and CDKL5 mutations, 57 with autism spectrum disorders, and 86 with epilepsy with or without intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9a954df1317e498a710b46970ec4a848 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15057977
"[Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNba8b69e5aaff0017aeb9b2d028a5757d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18678449
"[Mutations in MECP2 gene have been reported as being the major cause of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf88a6a78bd00e374ff820837ba6c5a3e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18184939
"[X-inactivation and MECP2 genotype didn't explain the phenotypic manifestations of Rett syndrome/genomic factors have to be considered to explain the phenotypic differences]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN36d58a9c7d4bc34af0327111053706b3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19168818
"[Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN497fe84d9a9977e35ca48e9d878f333d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17881312
"[Homozygosity for MECP2 gene in a girl with classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN30b79eefa4407b049b3ef1dc6f97d191 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12112736
"[The availability of animal models expressing mutations in MECP2 should enhance the evaluation of innovative therapies for RS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN439e2693e3030189a63535c36f73f90f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16905679
"[A statistically significant increase in clinical severity of Rett syndrome with increase in active mutated allele shown for both the p.R168X and p.T158M mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN01db8f300737c04b0b422259aba8e7b7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16708070
"[The discovery that Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN0d3c0a504d68a6b368f56863ca127042 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16630165
"[Very little is known about the phenotypes associated with mutations in exon 1 of MECP2 since only a limited number of RTT patients carrying such mutations have been identified so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3ae756b025e3e92bd7994403d1e36295 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15492925
"[Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN85d1b92d1781e55b1411b302760199ef http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21212100
"[Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa51f17ec8d0ee3ee0869c9ea3302cda9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738873
"[Thus, the identification of mutations in MECP2 creates completely new vistas as to fundamental neurobiologic processes, to disease mechanisms in the neurodevelopmental disabilities, and to potential new therapeutic strategies for RS and related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNc2cea2dd677692a08f623981d335232b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17965589
"[Of these five conditions, only RTT has a known genetic cause with mutations in Methyl-CpG-binding protein 2 (MeCP2), a global repressor of gene expression, responsible for the majority of RTT cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcd74d5c5469c6e5ac2c263abc704314c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077729
"[Our observation of a reduced survival associated with the p.R270X MECP2 mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfcc3ab6d5082dd92072ae0413d3e9225 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15633890
"[A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8a04be5afb1f785452e2af5976c351a3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/10737989
"[Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN90db086d0646b0606dc7d88dc483f44e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21871116
"[Mutations and gross rearrangements in MECP2 account for a large proportion of cases with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNacfb24a249a0d0bf52936fb917486e0f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16672765
"[Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdba65bad99bed1220d75cba8787423f1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15241799
"[Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd6c0963d3f89f1d4ed9f4dadfadd1c78 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17965612
"[Our data suggest that alterations in the affinity of MeCP2 for chromatin might contribute to the pathological effects of mutations causing Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdbe45f81fa1d4d3be998f80f764c977f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21940684
"[Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3edd19e887d48bf5de951fea597a5dc0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20207612
"[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNad46f2cd42a6b1650ffae4bb5695cf2b http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18184939
"[X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb442f9b43a273adfe5761322ab4472a2 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18332345
"[Investigating genotype-phenotype relationships in Rett syndrome using an international data set.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcfe80a6a148cfa547de2ba824307ca44 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24399845
"[Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbd2f2dad7a89dc164670036eb8e2f0ab http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/14649547
"[MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd0b6c814a937524b962f073f2a07f90f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23055267
"[The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN445d86c1279c681083c8f29c732f32ee http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24699272
"[Mutations in MECP2 are responsible for the majority of Rett syndrome cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN910de0e3da85a6b09966940663e28e0f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17712354
"[This study reaffirms the view that large MECP2 deletions are an important cause of both classical and atypical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa7e61e4943ef01fc2fdfe4a51e94882e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738866
"[Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN09ab15b06663390247faa79132e1a1e9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/12661945
"[Diagnosis of Rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2c861d74e644e676221e1d5c29969db1 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24564222
"[Sixteen interviews were conducted with parents with a daughter with Rett syndrome with a pathogenic mutation in the methyl-CpG-binding protein 2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN51909b9ab26782e7f62d38c7d2a3f99e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18174559
"[Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa4968cfb82d6eb760eb1688983c2fb76 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21626673
"[Thirty-five of them had a documented mutation in MECP2 while the remaining two fulfilled the clinical criteria for Rett syndrome and had been diagnosed by an experienced clinician.Few unusual facial features were noted.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNae133518063e59c32e9870ddd00f7c56 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11262731
"[Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf8ecd5eed95de4cb4d3141309c0b2a07 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24453408
"[Today, the pathways that MeCP2 mutations are able to affect in RTT are not clear yet.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1e507bdb3058230755a280506abbafd6 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/16754645
"[Here, we tested the hypothesis that MeCP2 deficiency affects expression of Ube3a in mouse models of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf05a493e7a62ab446b8af3517c137167 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/25762136
"[We present evidence that MeCP2 represses gene expression by binding to methylated CA sites within long genes, and that in neurons lacking MeCP2, decreasing the expression of long genes attenuates RTT-associated cellular deficits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN14c1bd8b79a572dadf774fe025df5342 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/25541993
"[Mice deficient for MeCP2 recapitulate some of the symptoms seen in patients with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2ce4a9b820eba33d10c3cf1238245aae http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12580340
"[Despite these recent advances in molecular genetics, little is known about the neurobiology of Rett syndrome and the role of MeCP2 protein in the nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7456a095609c1d4b06c388a01bb041eb http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/23035095
"[To approach this issue, we mapped expression of the activity-dependent, immediate-early gene product Fos in the brains of wild-type (Wt) and methyl-CpG-binding protein 2 (Mecp2)-null (Null) mice, a model of RTT, before and after the appearance of overt symptoms (3 and 6 weeks of age, respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa999136d03c45a0df9194dbe7a0244e5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/15809268
"[MeCP2 has a role in the developing brain; certain genes which are normally silenced by MeCP2 are misexpressed in Rett Syndrome [review]]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN69ce62e03d3fd070fe1473aaaf36e6dd http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/12535940
"[Considering that defective MeCP2 has mainly been related to Rett syndrome and other neurologic manifestations, we examined methyl-CpG-binding protein 2 cellular and subcellular compartmentalization in normal brain by immunochemical methods.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd3e0a7c1f32536ebb6aa3f6726636b9c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26245896
"[These data provide a mechanism for MeCP2 nuclear import and have implications for the design of therapeutics aimed at modulating the function of MeCP2 in RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN24bf0e152fa219f20d7bab490f928ca9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/11746022
"[Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNabf1db96108a680f0bdfd39e8cec7bd7 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/CTD_human http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/21316312
"[Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNca2795a8f0053eddf89d6a3cc01aded9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001121 http://identifiers.org/pubmed/26605526
"[Reversal of phenotypes in adult symptomatic mice has been demonstrated in some models of monogenic loss-of-function neurological disorders, including loss of MeCP2 in Rett syndrome, indicating that, at least in some cases, the neuroanatomy may remain sufficiently intact so that correction of the molecular dysfunction underlying these disorders can restore healthy physiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1a31b7af4eaf3ef6ba7b4c95a10a3731 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21807996
"[Mutations in methyl CpG binding protein 2 (MeCP2) are mainly responsible for RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN5187f900575f72abc0abad211254c9fc http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23449173
"[Rett syndrome is caused by mutations in the gene coding for methyl CpG-binding protein 2 (MeCP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN665a9d7786b122895362a7a934eb9236 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20661168
"[Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7942e269cdd0a6e75a6d4f2f78af2b69 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15000811
"[Mutations in the methyl-CpG-binding protein-2 (MECP2) gene on Xq28 have been found to be a cause of Rett syndrome (RS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe4453a8cc2a21e70332f2f197fa4d843 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21239731
"[Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNe4767ac0324401361c4d0d7099308c50 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19495527
"[MECP2 mutations in Malaysian Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN1a29253876d592a6a292181fcd1b4eef http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/27265524
"[Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2384eb007565b40ceda92d04c8f45fa9 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/20142466
"[Testing for mutations in the MECP2 gene identified a de novo hemizygous c.378-3C>G mutation at a highly conserved 3' splice site, consistent with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN7522c86366393698fa0ee2c702d16eb0 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11738862
"[Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN805c6789bdc16bdfef682a727f5ad973 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/11805248
"[A Rett syndrome MECP2 mutation that causes mental retardation in men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNa4cc406d6b97aba89d66d8d0b40a75d4 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16629931
"[People with MECP2 mutation-positive Rett disorder who converse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd1db6a209498a6e81f7f8401d8f962f3 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23262346
"[Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNf7ebb03faf545c0aaff18b3bd8156ded http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17427193
"[Mutations in the coding sequence of the methyl-CpG-binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfd2d25da08b72425d3e85ed28375537f http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24621584
"[Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN60b67afee6dd4e5dfc2e7b27e351ed95 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19552836
"[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN8a1e05960fc33ff67f26bcf4d1f53416 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/27296050
"[With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN9b1134d6a3c4297c84de97cfab7cf35c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/27001178
"[Mutations in FOXG1 have been reported to be involved in the onset of Rett Syndrome, for which sequence alterations of MECP2 and CDKL5 are known.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcd17c45f8bdc2b850f8b5be55b666032 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/25931020
"[Females with the MECP2 mutations exhibit a broad spectrum of clinical manifestations ranging from classical Rett syndrome to asymptomatic carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNd6eb3dfd6a705d9b377c907e33cbe147 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/26755454
"[Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN05af720ca632063c442c98b3212a63c5 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/GAD http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/19165708
"[Gross motor profile in rett syndrome as determined by video analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN43b83ba9f87adfd50e2eaadf5c53e46e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22383159
"[Although our results suggest that these genes are not commonly associated with RTT, we note the clinical similarity between RTT and Pitt-Hopkins syndrome, and suggest that RTT patients with no mutation identified in MECP2 be considered for molecular screening of the TCF4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN4e4eb249750a56f7ac1fca31706e8049 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/LHGDN http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/15712379
"[45 Rett syndrome patients who had tested negative for mutations in coding regions of MECP2 were found to have large deletions/deletions in MECP2 cause classic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN977b087f4a569289bb782ff6c925ca07 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/23696494
"[Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN992e1e629431e2af9c46820d20d5428d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/18174548
"[MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN201e490ac942941339996399c659055c http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/21954873
"[Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3c03b93e042352d3129336f8df1297ed http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22001500
"[Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2ddd2479d2ed14379a4da7052f560bba http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/24511209
"[Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the "pseudo-autistic" phase of RTT, which is related to the severity carried by the MECP2 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNbcfaa9bb6dfcbd2deb6eecf4bcb35999 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/17660293
"[MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNcdaf058cef52a041f75cce5b7d571970 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/16077736
"[MECP2 mutation screening results were available on 190 patients with a clinical diagnosis of RS (140 cases with classic RS, 50 with atypical RS).135 cases had identified mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNde3d1476cdb628a5837ea475ab39f155 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001122 http://identifiers.org/pubmed/22415763
"[Mutations in MECP2 are found in most cases of classic RTT but at least two additional genes, CDKL5 and FOXG1, can underlie some (usually variant) cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNdd36449d72da9c4aeea82ab0742b5bad http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/19369296
"[To determine if this dual role of MeCP2 extends beyond the hypothalamus, we studied gene expression patterns in the cerebellum of Mecp2-null and MECP2-Tg mice, modeling RTT and MECP2 duplication syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNfa4715edf7b19ef6ef8fa0a515345954 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/14649548
"[The presence of higher-molecular-weight form MeCP2 in postsynaptic fractions indicates a possible involvement in linking synaptic activity and transcriptional repression that, in turn, could play a role in the pathogenesis of Rett syndrome and other neurologic disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGNb7228ecdef0324a4120631dadb3ac58d http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/16182491
"[MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN3bd79f88dd14d2b04e7dcdfa6653a653 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/15362175
"[A recent study observed abnormal expression of MeCP2 in RTT and other neurodevelopmental disorders such as autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN2e6ae50953a917dbf01055c5186cb35e http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/26733678
"[Interestingly, overexpression of KCC2 in MeCP2-deficient neurons rescued GABA functional deficits, suggesting an important role of KCC2 in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en
http://rdf.disgenet.org/resource/gda/DGN481f272533eb38dadf748c2967f58236 http://linkedlifedata.com/resource/umls/id/C0035372 http://identifiers.org/ncbigene/4204
0.92
http://rdf.disgenet.org/v5.0.0/void/BEFREE http://semanticscience.org/resource/SIO_001123 http://identifiers.org/pubmed/15377381
"[In addition, we determined whether a specific methyl-CpG binding protein, MeCP2, is necessary for the inactive X histone modification pattern by studying Rett syndrome cells which are deficient in MeCP2 function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en