1.0

"[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

1.0

"[This review compares the evolution of thought within two ‘classic’ epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Sleep problems in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[We investigated the mechanisms leading to ADO in the MECP2 gene in two unrelated female patients undergoing testing for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two males) and in seven families with two or more affected females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[[Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We review the literature on MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Only females with Rett syndrome and an identified MECP2 mutation were included.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[[Limulus test (factor G) and polysaccharides from fungus].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Spectrum of MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Functional consequences of Rett syndrome mutations on human MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Epilepsy and the natural history of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Collectively, we tested 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT and found MECP2 mutations in 83 (40%) of 209 and 16 (84%) of 19 of the patients, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MECP2 mutation screening in Swedish classical Rett syndrome females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MECP2 mutation in male patients with non-specific X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MeCP2 deficiency is associated with impaired microtubule stability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[These results indicate that 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

1.0

"[[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

1.0

"[Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Although the behavioral phenotype appears to be primarily due to neuronal Mecp2 deficiency in mice, other cell types, including astrocytes and oligodendrocytes, also appear to contribute to some aspects of the RTT phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[However, the role of Mecp2 in Rett syndrome remains unclear.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Osteoblasts express MeCP2 and girls with RTT experience early onset osteoporosis, decreased bone mass and an increased fracture risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[LSD1 Neurospecific Alternative Splicing Controls Neuronal Excitability in Mouse Models of Epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Several groups have searched for large rearrangements within the MECP2 and the results indicate that a fraction of MECP2-negative RTT cases has large deletions of the MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and memory deficits present in mouse models of Rett syndrome and <i>MECP2</i> duplication syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[IGFBP3 overexpression was observed in the brains of mecp2-null mice and human RTT patients using real-time quantitative polymerase chain reaction and Western blot analyses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations of the MECP2 gene, affecting predominantly females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Most missense mutations causing Rett syndrome (RTT) affect domains of MeCP2 that have been shown to either bind methylated DNA or interact with a transcriptional co-repressor complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is a neurodevelopmental 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

1.0

"[Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Methyl-CpG-binding protein 2 (MeCP2) is a multifunctional methylated DNA binding protein; mutation of which causes Rett syndrome, a severe neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett Syndrome (RTT) is a neurodevelopmental 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

1.0

"[With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Consistent with these findings, we demonstrate that disease progression in a mouse model of RTT is unaffected by an inactivating mutation in the NLS of MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mice that lacked the gene encoding Mecp2, which is associated with Rett syndrome, in macrophages did not show signs of neurodevelopmental disorder but displayed spontaneous obesity, which was linked to impaired function of brown adipose tissue (BAT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Specifically, although MeCP2 is known to act as a transcriptional repressor, analyses of the RTT brain at steady-state conditions detected numerous differentially expressed genes, while the changes in transcript levels were mostly subtle.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Apneas, which are one of the core RTT breathing deficits, were significantly decreased to WT levels in Mecp2 KO mice after AAV9-MCO administration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[MeCP2 has recently been found to be downregulated in autistic spectrum disorders such as Angelman syndrome (AS) and RTT, which share some phenotypic manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Because of their involvement in cell differentiation and neural development, ID genes are ideal primary targets for MeCP2 regulation of neuronal maturation that may explain the molecular pathogenesis of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Our results reveal an unexpected alteration of the chromatin state of established MeCP2 target genes in lymphocytes of human subjects with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[These results indicate that 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

1.0

"[The wide spectrum of phenotypic variability in patients with RTT has been considered to be correlated with the mutation type and location in MECP2, and X-inactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[We review the literature on MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[In addition, we also show that aminoglycosides increased the prevalence of full-length MeCP2 protein in a dose-dependent manner in a lymphocyte cell line derived from a Rett syndrome girl with the R255X mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Mutations in MECP2 gene have been found in more than 80% of females with typical features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Two models are proposed for explaining general and regional neuronal abnormalities in RTT and the phenotypical outcome of MeCP2 dysfunction, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Mutations in MECP2 gene were found over 50% of patients with RTT in China.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Mice expressing a truncated allele of Mecp2 (Mecp2(308)) reproduce the motor and social behavior abnormalities of RTT; however, it is not known whether learning deficits are present in these animals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[These results demonstrate a CNS-specific cellular phenotype of MeCP2 high expression and suggest that MECP2 mutations in RTT are only manifested in MeCP2(hi) cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Rett syndrome (RTT) is a debilitating neurological condition associated with mutations in the X-linked MECP2 gene, where apparently normal development is seen prior to the onset of cognitive and motor deterioration at 6-18 months of life.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Almost two decades of research into RTT have greatly advanced our understanding of the function and regulation of the multifunctional protein MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[In this study, the quantitative imaging of glutamate homeostasis of hippocampal slices from methyl-CpG binding protein 2 knock-out (Mecp2-/y) mice, a model of Rett syndrome (RTT), revealed unusual repetitive glutamate transients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Therefore, we asked whether the intestinal fungal population of RTT subjects might contribute the sub-inflammatory status triggered by MeCP2 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[A total of 301 RTT alleles have been analyzed, demonstrating a total of 69 different mutations so far observed and accounting for 64% of MECP2 genes in RTT patients living in France.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations in the transcription factor methyl-CpG-binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome (RTT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Exons 3-4 were analyzed for mutations in 281 MR patients (aged 13 months-27 years old, 144 males-137 females) consisting of 88 patients referred for RTT and 193 patients referred for AS-like and FXS-like types of MR. Statistical analysis included correlation between classic MECP2-positive and MECP2-negative and variant RTT patients, and frequency of MECP2 mutations in the various categories.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is an X-linked neurodevelopmental disorder in which the MECP2 (methyl CpG-binding protein 2) gene is mutated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is a neurological disorder caused by the mutation of the X-linked MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations in MeCP2 gene cause the X-linked neurodevelopmental disease Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Subsequent studies have linked MeCP2 expression in CNS glial cells to Rett syndrome pathogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We show by using an inducible model of RTT that deletion of Mecp2 in adult mice recapitulates the germline knock-out phenotype, underscoring the ongoing role of MeCP2 in adult neurological function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Thus, MeCP2 in cholinergic neurons is necessary and sufficient for autonomic cardiac control, thermoregulation, and survival, and targeting the overactive parasympathetic system may be a useful therapeutic strategy to prevent sudden unexpected death in RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Additionally, we show that although the truncated MeCP2 protein in these mice localizes normally to heterochromatic domains in vivo, histone H3 is hyperacetylated, providing evidence that the chromatin architecture is abnormal and that gene expression may be misregulated in this model of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[We review the literature on MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[MeCP2 Rett mutations affect large scale chromatin organization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[In summary, we provide a new strategy for MECP2 gene targeting that can be potentially translated into gene therapy or for iPSCs-based disease modeling of RTT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[To determine the cellular basis of the defect, we exploit a female mouse model for Rett syndrome that expresses wild-type MeCP2-GFP in a mosaic distribution throughout the brain, allowing us to test all combinations of wild-type and mutant cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[In Mecp2-null rats, abnormalities in breathing patterns were apparent in both decerebrate rats and awake animals, suggesting that RTT-type breathing abnormalities take place in the brainstem without forebrain input.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Our study supports the idea that Rett syndrome might arise from simultaneous impairment of cellular processes involving non-overlapping functions of MECP2 isoforms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[It appears that there is a sex-dependent effect in X-linked MeCP2-associated disorders, as RTT primarily affects females, whereas MDS is found almost exclusively in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The X-linked gene MECP2, associated to several neurodevelopmental disorders such as Rett syndrome, encodes the protein methyl-CpG-binding protein 2 (MeCP2), a regulatory protein that has been implicated in neuronal maturation and refinement of olfactory circuits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The results confirm that dopaminergic dysfunction in RTT is also present in Mecp2-deficient mice and that reductions in D<sub>2</sub>R more likely explain the impaired ambulation and progressive rigidity observed rather than alterations in DAT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Thus, we examined the possible miRNA misregulation caused by Mecp2 absence in a mouse model of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[However, the variety of phenotypes identified in <i>Mecp2</i> mutant mouse models and RTT patients implicate important roles for MeCP2 in peripheral systems.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The nature of the latency is not known, but RTT-like phenotypes are recapitulated in mouse models, even when MeCP2 is removed at different postnatal stages, including juvenile and adolescent stages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The Rett syndrome gene was identified as MeCP2 gene on Xq28, a powerful transcriptional repressor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MeCP2 binding enhances MET expression in the presence of the rs1858830 C allele, but MET transcription is attenuated by RTT-specific mutations in MeCP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[By demonstrating that different MECP2 mutations can produce concordant neurological phenotypes but discordant molecular features, we highlight the importance of considering personalized approaches for the treatment of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The aim of this study was to assess the antioxidant status in RTT children with MECP2 gene mutations with respect to healthy controls, and to explore novel blood antioxidant markers for RTT severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is 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

1.0

"[Our findings, as well as literature findings, suggest that early brain abnormalities associated with RTT/RTT-l (with MECP2 mutations) can be detected as regionally decreased cerebellar volumes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[MeCP2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Clinically based diagnoses can be misleading, evident by the increasing number of genetic conditions associated with features of RTT with negative MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We analysed the MECP2 gene in 31 patients diagnosed with RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Because of their involvement in cell differentiation and neural development, ID genes are ideal primary targets for MeCP2 regulation of neuronal maturation that may explain the molecular pathogenesis of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[These articles explain how mutation of the gene (MECP2) for methyl-CpG-binding protein 2 causes the particular disorders of Rett syndrome, and also induces other neurodevelopmental disorders, clarifying the situation for future studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Knocking out Mecp2 function in mice recapitulates many of the overt neurological features seen in RTT patients, and the characteristic postnatally delayed onset of symptoms is accompanied by aberrant neuronal morphology and deficits in synaptic physiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[In addition, the major part of the therapies recommended to alleviate RTT symptoms have been shown to interfere with oxidative homeostasis, suggesting that MeCP2 could somehow be involved in the protection of the brain from OS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[In summary, we have shown that patients with exon 1 mutations transcribe normal levels of MECP2_e2 mRNA, and most PBL are positive for MeCP2 protein, despite them theoretically being unable to produce the MECP2_e1 isoform, and yet still exhibit the classical RTT phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[To test this hypothesis, we have analysed 19 families with RTT syndrome due to MECP2 molecular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Only females with Rett syndrome and an identified MECP2 mutation were included.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[MECP2 mutations mainly occur in females with Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[In this study, the MECP2 sequences in 121 unrelated Chinese patients with classical or atypical RTT were screened for deletions and mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X chromosome inactivation (XCI) in each girl.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[We identified mutations in the MECP2 gene and documented the clinical manifestations in 65 Rett syndrome patients to characterize the genotype-phenotype spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[In 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

1.0

"[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

1.0

"[Our objective is to develop viral vectors for MECP2 gene transfer into Neural Stem Cells (NSC) and neurons suitable for gene therapy of Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Loss of MECP2 function is the primary cause of Rett syndrome (RTT) in humans, a dominant, X-linked disorder dramatically affecting neural and motor development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[In this review, we will highlight recent findings that have expanded our knowledge of MeCP2's functions, and we will discuss how epigenetic regulation, chromatin organization and circuit dynamics may contribute to the postnatal onset of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Subclinical inflammatory status in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Mutation analysis in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[The MECP2 (methyl-CpG-binding protein 2) gene has been implicated in the pathogenesis of Rett Syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[While most MECP2 mutations are located in exons 3 and 4 thus affecting both isoforms, MECP2 exon 1 mutations but not exon 2 mutations have been identified in RTT patients, suggesting that MeCP2-e1 deficiency is sufficient to cause RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[A deregulation of monoamines has been detected in the brain and cerebrospinal fluid of both Rett patients and a Rett syndrome murine model, the Mecp2 knock-out mouse.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[We characterized BDNF protein expression, TrkB activation and respiration in heterozygous female Mecp2 mutant mice (Het), a model that recapitulates the somatic mosaicism for mutant MECP2 found in typical RTT patients, and evaluated the ability of a small molecule TrkB agonist, LM22A-4, to ameliorate biochemical and functional abnormalities in these animals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[The development of clinical applications imposes a more comprehensive knowledge of MeCP2 functional role(s) and their relevance for RTT pathobiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Here we show that Mecp2-deficient mice exhibit phenotypes that resemble some of the symptoms of RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[In this review, we will provide a synopsis of Rett syndrome as a severe neurological disorder and will discuss the role of MeCP2 in RTT pathophysiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Discovering which genes are misregulated in the absence of functional MeCP2 and demonstrating their role in causing neuronal dysfunction and disease manifestations are challenging but important steps for understanding the pathogenesis of Rett syndrome and related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others suggest that MeCP2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to Rett syndrome experimental models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[We have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X chromosome inactivation (XCI) in each girl.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Approximately a quarter of classic RTT cases, however, do not have an identifiable mutation of the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[We report herein a boy with classic RTT in a family with a missense mutation in MECP2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[We review the literature on MECP2 mutations in Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[We conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a clinical history of PSV of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Herein we report one propositus with five tandem deletions and a second propositus with three tandem deletions within MECP2 exon 4 that encode truncated protein products resulting in classic Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[Given that this is a minimum incidence because complete inventory was not possible, this study of patients with Rett syndrome reinforces the fact that the great majority of patients with Rett syndrome have a MECP2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[This is the first reported case of sex chromosome trisomy and MECP2 mutation in a female, and it illustrates the importance of allele dosage on the severity of Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[In this pilot study we have analyzed MECP2 mutations in ten Indian sporadic patients diagnosed clinically as having RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[In all, we identified 45 different MECP2 mutations in 102 of these RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[We conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a clinical history of PSV of Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Expression of normal MeCP2 in either CamKII or Eno2 distribution was unable to prevent the appearance of most of the phenotypes of the RTT mouse models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[Rett Syndrome, an X-linked dominant neurodevelopmental disorder characterized by regression of language and hand use, is primarily 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

1.0

"[Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Our findings demonstrate a positive impact of environmental enrichment in a Rett syndrome model; this impact may be dependent on the existence of one functional copy of Mecp2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[To determine whether the truncated gene product acts as a dominant negative allele and if RTT-like phenotypes could be rescued by expression of wild-type protein, we genetically introduced an extra copy of MECP2 via an MECP2 transgene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mecp2(R168X) mutants mirror many clinical features of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Here we show that Mecp2-deficient mice exhibit phenotypes that resemble some of the symptoms of RTT patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[In the last 15 years a strong correlation between oxidative stress (OxS) and Rett syndrome (RTT), a rare neurodevelopmental disorder known to be caused in 95% of the cases, by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, has been well documented.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Chronic osteomyelitis in patients with sickle cell disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[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

1.0

"[An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en

1.0