Abstract: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, ACVR1 R206H , shows increased bone morphogenetic protein (BMP) signaling and activation by activins.Results: Here, we performed in vivo functional characterization of human ACVR1 R206H and orthologous zebrafish Acvr1l R203H using early… Show more
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