Dysregulation of alternative splicing is a transcriptomic feature of patient-derived fibroblasts from CAG repeat expansion spinocerebellar ataxias.

Hum Mol Genet · 2025 · PMC11792238 · PMID 39589088

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an overall trendno p-value reported

We are reporting global changes, which showed both up and downregulated genes, with an overall trend of more genes showing downregulation than upregulation (2897 total downregulated genes versus 1264 upregulated) even after removal of confounding Y-linked genes reported as downregulated in female cell lines ( Figs 2B and S4A , Supplemental Table 3 ).

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