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Article

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Human molecular genetics - 15 Oct 2016

Jagannathan Sujatha, Shadle Sean C, Resnick Rebecca, Snider Lauren, Tawil Rabi N, van der Maarel Silvère M, Bradley Robert K, Tapscott Stephen J

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture models have been developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human muscle cells. Although results generated using each model are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

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Source

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Identifiers

PMID: 28171552
DOI: 10.1093/hmg/ddw271
PMCID: PMC6078597

Genes

DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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