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PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable skeletal myopathy. The condition is linked to hypomethylation of the D4Z4 macrosatellite repeat at chromosome 4q35, leading to epigenetic derepression of the transcription factor DUX4; coupled with a permissive 4qA haplotype sup...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Banerji, Christopher R S, Zammit, Peter S
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586142/
https://ncbi.nlm.nih.gov/pubmed/31067297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz043
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