MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in somatic cells. As targeted therapies are now possible in FSHD, a better understanding of the relationship between DUX4 activity, muscle pathology and muscle MRI changes are crucial both to understand disease mechanisms and for the design of future clinical trials. Here, we performed MRIs of the lower extremit...
Provenance — who produced it, who reused it
Linked to 7 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.
6 further papers cite this accession but reuse could not be confirmed.
Deep data QC
100/100 · AStandardized, field-standard QC computed by touching the data — every metric states how it was obtained · evidence: measured
The A grade is a transparent weighted average. Each metric below scored from 0–100% against the published bulk-RNA-seq thresholds, weighted by its importance; nothing is hidden or subjective.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0