DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. - Wikidata - wikimedia - TriplyDB

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

http://www.wikidata.org/entity/Q34243739

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Antiviral mechanisms of human defensins Transgenic 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 dystrophy Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis Rbfox1 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 Cells Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy Facioscapulohumeral 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 disorders Upper girdle imaging in facioscapulohumeral muscular dystrophy.DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle Different 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 cells Inter-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 dystrophy Determining 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 Dystrophy miRNA expression in control and FSHD fetal human muscle biopsies FHL1 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 aggregation DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy A 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.

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P2860

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

http://www.wikidata.org/entity/Q34243739

description

2011 nî lūn-bûn

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2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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type

label

DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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prefLabel

DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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J.DEVCEL.2011.11.013

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Developmental Cell

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DUX4 activates germline genes, ...... facioscapulohumeral dystrophy.

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Abraham P Fong

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Janet M Young

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Jennifer N Cech

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Lauren Snider

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Linda N Geng

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Rabi Tawil

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Robert C Gentleman

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Silvere M van der Maarel

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Stephen J Tapscott

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P2860

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages

A -defensin mutation causes black coat color in domestic dogs

Zscan4 regulates telomere elongation and genomic stability in ES cells

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

A unifying genetic model for facioscapulohumeral muscular dystrophy

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38-51

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10.1016/J.DEVCEL.2011.11.013

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1

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Walter L. Ruzzo

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