DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyIntrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHDMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesFacioscapulohumeral muscular dystrophy: consequences of chromatin relaxationAntiviral mechanisms of human defensinsTransgenic 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 dystrophyRecurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophyHomologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle DifferentiationFacioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesisRbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic CellsEndogenous 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 2DUX4 and DUX4 downstream target genes are expressed in fetal FSHD musclesSORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophyFacioscapulohumeral Dystrophy.Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1)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.Human skeletal muscle xenograft as a new preclinical model for muscle disordersUpper girdle imaging in facioscapulohumeral muscular dystrophy.DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscleDifferent molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles.FSHD myotubes with different phenotypes exhibit distinct proteomes.Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cellsInter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophyDetermining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular DystrophymiRNA expression in control and FSHD fetal human muscle biopsiesFHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregationDUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophyA feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
P2860
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P2860
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@ast
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@en
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@nl
type
label
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@ast
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@en
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@nl
prefLabel
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@ast
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@en
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@nl
P2093
P2860
P1433
P1476
DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.
@en
P2093
Abraham P Fong
Janet M Young
Jennifer N Cech
Lauren Snider
Linda N Geng
Rabi Tawil
Robert C Gentleman
Silvere M van der Maarel
Stephen J Tapscott
P2860
P356
10.1016/J.DEVCEL.2011.11.013
P407
P577
2011-12-29T00:00:00Z