Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
about
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeMECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originRett syndrome: revised diagnostic criteria and nomenclatureRett syndrome and MeCP2: linking epigenetics and neuronal functionCDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailRett syndrome: clinical review and genetic updateDLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiencyRett syndrome and the MECP2 geneGene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutationsMECP2 disorders: from the clinic to mice and backEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseRett syndrome: a prototypical neurodevelopmental disorderHaplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autismMethylation mattersIsogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease modelFXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitabilityAlternative polyadenylation of MeCP2: Influence of cis-acting elements and trans-acting factorsBdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutationsNon-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout ratsMethyl CpG binding proteins: coupling chromatin architecture to gene regulation.DNA recognition by the methyl-CpG binding domain of MeCP2.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.Functional diversification of the nematode mbd2/3 gene between Pristionchus pacificus and Caenorhabditis elegansMeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery.Functional consequences of Rett syndrome mutations on human MeCP2.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndromeDNA methylation and histone deacetylation in the control of gene expression: basic biochemistry to human development and disease.Chromatin modification and diseaseNovel variants identified in methyl-CpG-binding domain genes in autistic individuals.Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesDiagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndromeTranscriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain.Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmissionGenetic effects on human cognition: lessons from the study of mental retardation syndromesAnnotation: Rett syndrome: recent progress and implications for research and clinical practice.
P2860
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P2860
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@ast
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@en
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@nl
type
label
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@ast
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@en
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@nl
prefLabel
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@ast
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@en
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@nl
P2093
P2860
P921
P356
P1476
Rett syndrome and beyond: recu ...... ECP2 mutations at CpG hotspots
@en
P2093
I Houwink-Manville
J L Pereira
N C Schanen
P2860
P304
P356
10.1086/302690
P407
P50
P577
1999-12-01T00:00:00Z