Article

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2

2023-02-28

Abstract excerpt

Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) is a non-canonical member of the structural maintenance of chromosomes (SMC) protein family involved in the regulation of chromatin structure, epigenetic regulation, and transcription. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy type 2 (FSHD2), a rare genetic disorder characterized by progressive muscle weakness...

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Literature Corpus work: 72a30c5d-1a7b-5311-8865-85cafddd1345
DOI: 10.1101/2023.02.27.530258

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