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Mutations in COL6A3 lead to collagen VI-related myopathies due to COL6A3 loss. Therefore, studying the consequence of Col6a3 deregulated expression in mouse models is relevant, but the Col6a3 knockout mouse models currently available through a public repository does not entirely abolish COL6A3 prote...
ORGANISM(S): Mus musculus (Mouse) 
2025-12-08 | PXD057310 | Pride
Single-cell and spatial transcriptomics identify COL6A3 as a prognostic biomarker in undifferentiated pleomorphic sarcoma
A high-risk osteoarthritis mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells
Osteoarthritis (OA) is a complex disease arising from a combination of genetic, biological, and mechanical risk factors that act, in part, to alter chondrocyte homeostasis. Our recent exome sequencing studies identified a causal OA variant in COL6A3, a monomeric unit of collagen type VI that serves ...
ORGANISM(S): Homo sapiens 
2025-04-08 | GSE293777 | GEO
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