Molecular dissection of the events leading to inactivation of the FMR1 gene.
about
Transcription factor FIGLA is mutated in patients with premature ovarian failureTranscriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeWhere Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability DisordersFragile X syndromeRepeat-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 CellsThe promise and perils of HDAC inhibitors in neurodegenerationRole of CTCF protein in regulating FMR1 locus transcriptionFrom FMRP function to potential therapies for fragile X syndrome.CGG repeat in the FMR1 gene: size mattersOvarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case reportDiverse histone modifications on histone 3 lysine 9 and their relation to DNA methylation in specifying gene silencing.Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disordersMethylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.Clinical 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.Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutationFMR1 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 transcriptionThe active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications.Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) geneRepeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.Comparing ESC and iPSC-Based Models for Human Genetic DisordersCascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndromeFragile 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 syndromeX-linked mental retardation and epigenetics.Genome-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.Bidirectional transcription of trinucleotide repeats: roles for excision repair.Chromatin remodeling in the noncoding repeat expansion diseases.Epigenetics, autism spectrum, and neurodevelopmental disorders.Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.
P2860
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P2860
Molecular dissection of the events leading to inactivation of the FMR1 gene.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Molecular dissection of the events leading to inactivation of the FMR1 gene.
@en
type
label
Molecular dissection of the events leading to inactivation of the FMR1 gene.
@en
prefLabel
Molecular dissection of the events leading to inactivation of the FMR1 gene.
@en
P2093
P2860
P356
P1476
Molecular dissection of the events leading to inactivation of the FMR1 gene.
@en
P2093
Alessandra Terracciano
Ben Oostra
Claudia Bagni
Elisabetta Tabolacci
Francesca Zalfa
Giovanni Neri
Ilaria Zito
Pietro Chiurazzi
Roberta Pietrobono
Umberto Moscato
P2860
P304
P356
10.1093/HMG/DDI024
P577
2004-11-24T00:00:00Z