Article

Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells

2020-07-28

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited muscle disease caused by misexpression of the DUX4 gene in skeletal muscle. DUX4 is a transcription factor which is normally expressed in the cleavage-stage embryo and regulates gene expression involved in early embryonic development. Recent studies revealed that DUX4 also activates the transcription of repetitive elements such as endogenous retrovirus...

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Literature Corpus work: a1d88e8d-277b-5d61-9e18-d6a1f8497d87
DOI: 10.1101/2020.07.27.224147

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