PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle.

Importantly, PAX7 target gene repression was also found to be a significant biomarker of FSHD status in each of the five microarray FSHD muscle biopsy studies independently, leading to a highly significant repression of PAX7 target genes on meta-analysis (Fisher’s combined test p = 3.5 × 10 −9 , Fig. 3c ).

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10 failed to reach significance.

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Moreover, across the five microarray FSHD studies, although no individual study showed statistically significant elevation of DUX4 target gene expression, all studies showed a positive trend towards this.

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