Article
Lrif1 modulates Trim28-mediated repression of the <i>Dux</i> locus in mouse embryonic stem cells
2024-11-18
Abstract excerpt
<h4>SUMMARY</h4> Germline mutations in SMCHD1, DNMT3B and LRIF1 can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2). FSHD is an epigenetic skeletal muscle disorder in which partial failure in heterochromatinization of the D4Z4 macrosatellite repeat causes spurious expression of the repeat-embedded DUX4 gene in skeletal muscle, ultimately leading to muscle weakness and wasting. All three proteins play...
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Identifiers and source
- Literature Corpus work
- 231632b0-44fc-5dd2-a4d3-7c43dce8d4ad
- DOI
- 10.1101/2024.11.18.624083
