Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
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Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophyHomologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiationβ-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.miRNA 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 dystrophyEnd-targeting proteomics of isolated chromatin segments of a mammalian ribosomal RNA gene promoter.Emerging preclinical animal models for FSHD.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseFacioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophyIdentification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics.Genetic and epigenetic contributors to FSHD.Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics.DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesisRet function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.Multiple system atrophy: genetic or epigenetic?Eukaryotic enhancers: common features, regulation, and participation in diseases.Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the PractA Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies.Conservation and innovation in the DUX4-family gene network.PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle.MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients.High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial.Spontaneous resolution of retinal vascular abnormalities and macular oedema in facioscapulohumeral muscular dystrophy.Correction of the FSHD myoblast differentiation defect by fusion with healthy myoblasts.A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
description
2014 nî lūn-bûn
@nan
2014 թուականին հրատարակուած գիտական յօդուած
@hyw
2014 թվականին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@ast
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en-gb
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@nl
type
label
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@ast
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en-gb
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@nl
prefLabel
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@ast
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en-gb
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@nl
P2860
P3181
P356
P1433
P1476
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
@en
P2093
Rabi Tawil
Stephen J Tapscott
P2860
P2888
P3181
P356
10.1186/2044-5040-4-12
P407
P577
2014-01-01T00:00:00Z
P5875
P6179
1019508291