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Developmental regulators drive DUX4 expression in facioscapulohumeral muscular dystrophy

2024-05-21

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle wasting disease caused by misexpression of the Double Homeobox 4 (DUX4) transcription factor in skeletal muscle. While epigenetic derepression of D4Z4 macrosatellite repeats is recognized to cause DUX4 misexpression in FSHD, the factors promoting DUX4 transcription are unknown. Here, we show that SIX ( sine oculis ) transcription factors, crit...

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Identifiers and source

Literature Corpus work
7517a4bb-5e42-5af9-bd45-6d1d569c24b6
DOI
10.1101/2024.05.21.595131
Open publication

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Developmental regulators drive DUX4 expression in facioscapulohumeral muscular dystrophyDOI 10.1101/2024.05.21.595131
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