Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
about
Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyIntrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHDFacioscapulohumeral dystrophy: incomplete suppression of a retrotransposed geneDNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxationTransgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyFacioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesisA unifying genetic model for facioscapulohumeral muscular dystrophyEndogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathwaysThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Genetics. Exposing a DUX tale.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivoExpression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patternsGene expression during normal and FSHD myogenesis.DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.The FSHD atrophic myotube phenotype is caused by DUX4 expression.DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophyDUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.Clinical features of facioscapulohumeral muscular dystrophy 2.Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgeneEvolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35).Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with diseaseThe role of genetics in the establishment and maintenance of the epigenome.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophyIndividual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequencesEmerging preclinical animal models for FSHD.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease
P2860
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P2860
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Common epigenetic changes of D ...... contraction-independent FSHD.
@ast
Common epigenetic changes of D ...... contraction-independent FSHD.
@en
type
label
Common epigenetic changes of D ...... contraction-independent FSHD.
@ast
Common epigenetic changes of D ...... contraction-independent FSHD.
@en
prefLabel
Common epigenetic changes of D ...... contraction-independent FSHD.
@ast
Common epigenetic changes of D ...... contraction-independent FSHD.
@en
P2093
P356
P1433
P1476
Common epigenetic changes of D ...... contraction-independent FSHD.
@en
P2093
Baziel G M van Engelen
Jessica C de Greef
Rabi Tawil
Richard J L F Lemmers
Rune R Frants
Shannon L Venance
P304
P356
10.1002/HUMU.21091
P577
2009-10-01T00:00:00Z