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Article

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Human molecular genetics - 1 Aug 2018

Lim Jong-Won, Wong Chao-Jen, Yao Zizhen, Tawil Rabi, van der Maarel Silvère M, Miller Daniel G, Tapscott Stephen J, Filippova Galina N

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is caused by insufficient epigenetic repression of D4Z4 macrosatellite repeat where DUX4, an FSHD causing gene is embedded. There are two forms of FSHD, FSHD1 with contraction of D4Z4 repeat and FSHD2 with chromatin compaction defects mostly due to SMCHD1 mutation. Previous reports showed DUX4-induced gene expression changes as well as changes in microRNA expression...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

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Share to RNA, Ribosomal, 5S

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Source

Open in PubMed Open full text

Identifiers

PMID: 29741619
DOI: 10.1093/hmg/ddy173
PMCID: PMC6048983

Genes

DUX4
SMCHD1

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.

Related research

Semantic proximity does not establish scientific evidence.

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Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.PMID 29741619Read ↗

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