Article
Twists in the fibrodysplasia ossificans progressiva story challenge and expand our understanding of BMP biology.
The Journal of clinical investigation - 15 Jun 2022
Collins Michael T
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is an ultrarare, debilitating disease in which heterotopic bone is formed in certain soft tissues. A gain-of-function variant in the cytoplasmic domain of the activin A receptor type I (ACVR1) exists in all patients with FOP. Strikingly, these FOP-causing variants imbue a neofunction to ACVR1 - the ability to recognize activin A as an agonist with bone morphogenic...
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