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Article

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Human molecular genetics - 15 Nov 2003

Winokur Sara T, Chen Yi-Wen, Masny Peter S, Martin Jorge H, Ehmsen Jeffrey T, Tapscott Stephen J, van der Maarel Silvere M, Hayashi Yukiko, Flanigan Kevin M

Abstract excerpt

The neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD) results from integral deletions of the subtelomeric repeat D4Z4 on chromosome 4q. A disruption of chromatin structure affecting gene expression is thought to underlie the pathophysiology. The global gene expression profiling...

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Source

Identifiers

PMID: 14519683
DOI: 10.1093/hmg/ddg327

Genes

DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14519683-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.PMID 14519683Read ↗

Gene expression during normal and FSHD myogenesisSemantic proximity Read ↗

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD‐dependent genesSemantic proximity Read ↗

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkersSemantic proximity Read ↗

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.Semantic proximity Read ↗

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.Semantic proximity Read ↗

Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophySemantic proximity Read ↗

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.Semantic proximity Read ↗

Single-myofiber RNA-sequencing reveals myofiber-level transcriptomic heterogeneity and DUX4 activation in FSHD muscle biopsiesSemantic proximity Read ↗

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophySemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.Semantic proximity Read ↗

FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammationSemantic proximity Read ↗

Next-Generation Sequencing Analysis of MiRNA Expression in Control and FSHD MyogenesisSemantic proximity Read ↗

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