basic FUNCTION
| involved in regulation of transcription, DNA-dependent |
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DUX4-mediated cell death contributes to the pathogenic pathway in FSHD (Kowaljow 2007) |
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DUX4 originated from retrotransposition of a processed transcript, most probably DUXC  |
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initiates a large transcription deregulation cascade leading to muscle atrophy and oxidative stress, which are FSHMD1A key features  |
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role for DUX4 and repetitive elements in mammalian germline evolution and in FSHD muscular dystrophy  |
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expression of DUX4 accounts for the majority of the gene expression changes in FSHD skeletal muscle together with an immune cell infiltration  |
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DUX4, is responsible for driving gene expression signatures known as zygotic gene activation (ZGA) at the cleavage stage of totipotent zygotes  |