The FSHD atrophic myotube phenotype is caused by DUX4 expression. - Wikidata - awgldk - TriplyDB

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways 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 Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.FSHD myotubes with different phenotypes exhibit distinct proteomes.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells 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.miRNA expression in control and FSHD fetal human muscle biopsies Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD Genetic and epigenetic contributors to FSHD.Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice.CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics.DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.

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The FSHD atrophic myotube phenotype is caused by DUX4 expression.

http://www.wikidata.org/entity/Q34067055

description

2011 nî lūn-bûn

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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年学术文章

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2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

@zh-my

2011年学术文章

@zh-sg

2011年學術文章

@yue

name

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@ast

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@en

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@nl

type

label

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@ast

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@en

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@nl

prefLabel

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@ast

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@en

The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@nl

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JOURNAL.PONE.0026820

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The FSHD atrophic myotube phenotype is caused by DUX4 expression.

@en

P2093

Alexandra Tassin

http://www.w3.org/2001/XMLSchema#string

Céline Vanderplanck

http://www.w3.org/2001/XMLSchema#string

Dalila Laoudj-Chenivesse

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Eugénie Ansseau

http://www.w3.org/2001/XMLSchema#string

Frédérique Coppée

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Nadia Stricwant

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Steve D Wilton

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Sébastien Charron

http://www.w3.org/2001/XMLSchema#string

P2860

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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

Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements

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

Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein

CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea

mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina

Inhibition of flavivirus infections by antisense oligomers specifically suppressing viral translation and RNA replication.

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

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e26820

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10.1371/JOURNAL.PONE.0026820

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10

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6

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Alexandra Belayew

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2011-10-28T00:00:00Z

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51769990

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22053214

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3203905

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