DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most of the molecular changes seen in FSHD. Since DUX4 is a transcription factor, we used RNA-seq to measure gene expression in muscle...
Provenance — who produced it, who reused it
Linked to 10 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.
- DUX4-induced gene expression is the major molecular signature in... 2014 · 224 cites
- 8C-like cells capture the human zygotic genome activation progra... 2022 · 156 cites
- A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscu... 2016 · 120 cites
7 further papers cite this accession but reuse could not be confirmed.
Deep data QC
metadata only · no data-level QC for this typeStandardized, field-standard QC computed by touching the data — every metric states how it was obtained
No quantitative QC rubric exists for this data type yet, so it is deliberately left unscored — this is an honest "not applicable", not a poor rating.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently