A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
about
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originX-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28Rett syndrome and MeCP2: linking epigenetics and neuronal functionCNV and nervous system diseases--what's new?Rett syndrome: clinical review and genetic updateRett syndrome and the MECP2 geneGenetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD)Epigenetics of Alzheimer's disease and frontotemporal dementiaRett syndrome: disruption of epigenetic control of postnatal neurological functionsRett syndrome: a prototypical neurodevelopmental disorderMeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse numberA partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeNon-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Methyl CpG binding proteins: coupling chromatin architecture to gene regulation.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardationAutism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Familial cases and male cases with MECP2 mutationsGene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.Genetics and pathophysiology of mental retardation.Annotation: Rett syndrome: recent progress and implications for research and clinical practice.The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.The epidemiology of mental retardation: challenges and opportunities in the new millennium.First case report of Rett syndrome in the Azeri Turkish population and brief review of the literatureA computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.Rett syndrome: the complex nature of a monogenic disease.MECP2 mutation in non-fatal, non-progressive encephalopathy in a maleMECP2 and beyond: phenotype-genotype correlations in Rett syndrome.Adult Phenotypes in Angelman- and Rett-Like Syndromes.Regulatory functions and pathological relevance of the MECP2 3'UTR in the central nervous system.X linked mental retardation: a clinical guide.MeCP2 dysfunction in humans and mice.Does genotype predict phenotype in Rett syndrome?MECP2 mutations in males.A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
P2860
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P2860
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年論文
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A mutation in the rett syndrom ...... rogressive spasticity in males
@ast
A mutation in the rett syndrom ...... rogressive spasticity in males
@en
A mutation in the rett syndrom ...... rogressive spasticity in males
@nl
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label
A mutation in the rett syndrom ...... rogressive spasticity in males
@ast
A mutation in the rett syndrom ...... rogressive spasticity in males
@en
A mutation in the rett syndrom ...... rogressive spasticity in males
@nl
prefLabel
A mutation in the rett syndrom ...... rogressive spasticity in males
@ast
A mutation in the rett syndrom ...... rogressive spasticity in males
@en
A mutation in the rett syndrom ...... rogressive spasticity in males
@nl
P2093
P2860
P356
P1476
A mutation in the rett syndrom ...... rogressive spasticity in males
@en
P2093
Bruttini M
Denvriendt K
Rizzolio F
P2860
P304
P356
10.1086/303078
P407
P577
2000-09-12T00:00:00Z