Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
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Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeEpigenetics and Triplet-Repeat Neurological DiseasesRepeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disordersStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneModeling Fragile X Syndrome Using Human Pluripotent Stem CellsRole of CTCF protein in regulating FMR1 locus transcriptionFrom FMRP function to potential therapies for fragile X syndrome.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitroClinical and molecular implications of mosaicism in FMR1 full mutations.The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cellsPolycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcriptionRepeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.Is Friedreich ataxia an epigenetic disorder?Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndromeGenome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.Epigenetics in nucleotide repeat expansion disorders.FMR1: a gene with three faces.CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.The hunt for the epiallele.Epigenetic regulation of gene expression in physiological and pathological brain processes.Emerging roles of epigenetic mechanisms in Parkinson's disease.Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.Human pluripotent stem cell models of Fragile X syndrome.The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Defining the role of the CGGBP1 protein in FMR1 gene expression.Size and methylation mosaicism in males with Fragile X syndrome.Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.Recent advances in assays for the fragile X-related disorders.Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome.Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.Of Men and Mice: Modeling the Fragile X Syndrome.Epigenetics, fragile X syndrome and transcriptional therapy.
P2860
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P2860
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@en
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@nl
type
label
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@en
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@nl
prefLabel
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@en
Epigenetic analysis reveals a ...... 1 unmethylated full mutations.
@nl
P2093
P2860
P356
P1476
Epigenetic analysis reveals a ...... R1 unmethylated full mutations
@en
P2093
Elisabetta Tabolacci
Giovanni Neri
Pietro Chiurazzi
Umberto Moscato
P2860
P2888
P304
P356
10.1038/EJHG.2008.130
P577
2008-07-16T00:00:00Z