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Article

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Human molecular genetics - 1 Dec 2018

Sasaki-Honda Mitsuru, Jonouchi Tatsuya, Arai Meni, Hotta Akitsu, Mitsuhashi Satomi, Nishino Ichizo, Matsuda Ryoichi, Sakurai Hidetoshi

Abstract excerpt

Double homeobox 4 (DUX4), the causative gene of facioscapulohumeral muscular dystrophy (FSHD), is ectopically expressed in the skeletal muscle cells of FSHD patients because of chromatin relaxation at 4q35. The diminished heterochromatic state at 4q35 is caused by either large genome contractions [FSHD type 1 (FSHD1)] or mutations in genes encoding chromatin regulators, such as SMCHD1 [FSHD type 2 (FSHD2)]....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Induced Pluripotent Stem Cells

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Share to Muscular Dystrophy, Facioscapulohumeral

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Source

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Identifiers

PMID: 30107443
DOI: 10.1093/hmg/ddy293
PMCID: PMC6240734

Genes

DUX4
SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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