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Functional comparison of human ACVR1 and zebrafish Acvr1l FOP‐associated variants in embryonic zebrafish

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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.… Click to show full abstract

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.

Keywords: comparison human; zebrafish; fop; human acvr1; acvr1 zebrafish; functional comparison

Journal Title: Developmental Dynamics
Year Published: 2023

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