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Article

PAX7 target gene repression associates with FSHD progression and pathology over 1 year

27 Apr 2020

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, inherited skeletal myopathy linked to hypomethylation of the D4Z4 macrosatellite at chromosome 4q35. This epigenetic de-repression permits expression of the transcription factor DUX4, which may drive pathology by direct activation of target genes or through inhibition of the homologous transcription factor PAX7. We demonstrated that PAX7 target gene...

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PMID: 32347924
DOI: 10.1093/hmg/ddaa079

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