(Q28240924)

DNA methylation and human disease

31 March 2020

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

31 March 2020

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Methyl-CpG binding proteins in the nervous system

31 March 2020

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DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

31 March 2020

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MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

31 March 2020

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

31 March 2020

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The Ski protein family is required for MeCP2-mediated transcriptional repression

31 March 2020

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DNA methylation specifies chromosomal localization of MeCP2.

31 March 2020

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The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA

31 March 2020

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A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

31 March 2020

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The major form of MeCP2 has a novel N-terminus generated by alternative splicing

31 March 2020

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

31 March 2020

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Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

31 March 2020

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Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

31 March 2020

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Rett syndrome: clinical review and genetic update

31 March 2020

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Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

31 March 2020

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Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

31 March 2020

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

31 March 2020

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Large genomic rearrangements in MECP2

31 March 2020

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Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

31 March 2020

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

31 March 2020

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Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

31 March 2020

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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

31 March 2020

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p.R270X MECP2 mutation and mortality in Rett syndrome

31 March 2020

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No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

31 March 2020

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MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

31 March 2020

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Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

31 March 2020

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Classic Rett syndrome in a boy with R133C mutation of MECP2.

31 March 2020

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MECP2 mutation in male patients with non-specific X-linked mental retardation.

31 March 2020

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MECP2 is highly mutated in X-linked mental retardation.

31 March 2020

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MECP2 mutation in a boy with language disorder and schizophrenia

31 March 2020

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Parental origin of de novo MECP2 mutations in Rett syndrome

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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

31 March 2020

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Low frequency of MECP2 mutations in mentally retarded males.

31 March 2020

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

31 March 2020

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

31 March 2020

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

31 March 2020

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

31 March 2020

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

31 March 2020

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Germline mosaicism in Rett syndrome identified by prenatal diagnosis

31 March 2020

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

31 March 2020

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

31 March 2020

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Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

31 March 2020

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Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

31 March 2020

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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

31 March 2020

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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

31 March 2020

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Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome

31 March 2020

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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

31 March 2020

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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

31 March 2020

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The neurobiology of Rett syndrome

31 March 2020

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Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.

31 March 2020

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Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

31 March 2020

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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

31 March 2020

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Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.

31 March 2020

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

31 March 2020

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Suppression of MeCP2beta expression inhibits neurite extension in PC12 cells

31 March 2020

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Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome

31 March 2020

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Neurobiology of Rett syndrome: a genetic disorder of synapse development

31 March 2020

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Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

31 March 2020

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Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

31 March 2020

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MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

31 March 2020

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Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

31 March 2020

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Histone methylation in transcriptional control

31 March 2020

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The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation

31 March 2020

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The DNA methyltransferases associate with HP1 and the SUV39H1 histone methyltransferase

31 March 2020

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Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation

31 March 2020

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Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

31 March 2020

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Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

31 March 2020

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The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

31 March 2020

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Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency

31 March 2020

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Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

31 March 2020

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DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

31 March 2020

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

31 March 2020

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BDNF mRNA expression during postnatal development, maturation and aging of the human prefrontal cortex.

31 March 2020

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Brain-derived neurotrophic factor and epilepsy--a missing link?

31 March 2020

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Brain-Derived Neurotrophic Factor/TrkB Signaling in Memory Processes

31 March 2020

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Brain-derived neurotrophic factor transgenic mice exhibit passive avoidance deficits, increased seizure severity and in vitro hyperexcitability in the hippocampus and entorhinal cortex.

31 March 2020

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Learning to take a deep breath--with BDNF.

31 March 2020

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Brain-derived neurotrophic factor is required for the maintenance of cortical dendrites

31 March 2020

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Learning deficits in forebrain-restricted brain-derived neurotrophic factor mutant mice.

31 March 2020

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The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

31 March 2020

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MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

31 March 2020

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Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

31 March 2020

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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

31 March 2020

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Neurological aspects of the Angelman syndrome

31 March 2020

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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

31 March 2020

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Activity-dependent mRNA splicing controls ER export and synaptic delivery of NMDA receptors

31 March 2020

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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

31 March 2020

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Multiple links between transcription and splicing

31 March 2020

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