Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene - Wikidata - awgldk - TriplyDB

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

http://www.wikidata.org/entity/Q21563391

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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 A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicine A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation 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 Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.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 LINE-1 elements in structural variation and disease NANOGP8: evolution of a human-specific retro-oncogene 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.β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.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 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.Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!Skeletal muscle generated from induced pluripotent stem cells - induction and application.Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.Gene expression during normal and FSHD myogenesis.Distinct epigenomic features in end-stage failing human hearts 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 dystrophy A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

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P2860

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

http://www.wikidata.org/entity/Q21563391

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

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2010年論文

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2010年論文

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2010年论文

@wuu

name

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@ast

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@en

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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type

label

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@ast

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@en

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@nl

altLabel

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

@en

prefLabel

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@ast

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

@en

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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JOURNAL.PGEN.1001181

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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Angelique M Nelson

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Carol B Ware

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Galina N Filippova

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Lauren Snider

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Linda N Geng

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Rabi Tawil

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Richard J L F Lemmers

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Stephen J Tapscott

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P2860

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

Pseudogene-derived small interfering RNAs regulate gene expression in mouse oocytes

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

A unifying genetic model for facioscapulohumeral muscular dystrophy

Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl

Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

RNA-based gene duplication: mechanistic and evolutionary insights

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e1001181

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scholarly article

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1014852

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10.1371/JOURNAL.PGEN.1001181

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10

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6

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Daniel G. Miller

Silvère M van der Maarel

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2010-10-01T00:00:00Z

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47718746

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21060811

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2965761

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