Article

ACVR1 <sup>R206H</sup> increases osteogenic/ECM gene expression and impairs myofiber formation in human skeletal muscle stem cells

2021-01-19

Abstract excerpt

Abnormalities in skeletal muscle repair lead to poor function and complications such as scarring or heterotopic ossification (HO). Here, we use fibrodysplasia ossificans progressiva (FOP), a disease of progressive HO caused by ACVR1 R206H (Activin receptor type-1 receptor) mutation, to elucidate how ACVR1 affects skeletal muscle repair. Rare and unique primary FOP human muscle stem cells (Hu-MuSCs) isolated from...

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Literature Corpus work: d970fe7d-2c65-50e8-bc39-cbbb9e97c5ff
DOI: 10.1101/2021.01.18.427082

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