Article
Functional comparison of human ACVR1 and zebrafish Acvr1l FOP-associated variants in embryonic zebrafish.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 May 2023
Lalonde Robert L, Nicolas Hannah A, Cutler Rowan S, Pantekidis Irene, Zhang Weibo, Yelick Pamela C
Abstract excerpt
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), a rare disease characterized by progressive heterotopic ossification of muscle and connective tissues, is caused by autosomal dominant activating mutations in the type I receptor, ACVR1/ALK2. The classic human FOP variant, ACVR1R206H , shows increased bone morphogenetic protein (BMP) signaling and activation by activins. RESULTS: Here, we performed in vivo...
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