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Article

Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.

Cold Spring Harbor perspectives in biology - 1 Apr 2025

Arends Tessa, Hamm Danielle C, van der Maarel Silvère, Tapscott Stephen J

Abstract excerpt

Facioscapulohumeral dystrophy (FSHD) is caused by misexpression of the early embryonic transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is normally expressed at the 4-cell stage of the human embryo and initiates a portion of the first wave of embryonic gene expression that establishes the totipotent cells of the embryo. Following brief expression, the DUX4 locus is suppressed by...

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Topics

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Share to Epigenesis, Genetic
Share to Gene Silencing
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Mutation

Source

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Identifiers

PMID: 39009417
DOI: 10.1101/cshperspect.a041492
PMCID: PMC11733064

Genes

DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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