Article
The HIF-1α and mTOR Pathways Amplify Heterotopic Ossification.
Biomolecules - 24 Jan 2024
Wang Haitao, Kaplan Frederick S, Pignolo Robert J
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP; MIM# 135100) is an ultra-rare congenital disorder caused by gain-of-function point mutations in the Activin receptor A type I (ACVR1, also known as ALK2) gene. FOP is characterized by episodic heterotopic ossification (HO) in skeletal muscles, tendons, ligaments, or other soft tissues that progressively causes irreversible loss of mobility. FOP mutations cause mild...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
