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• W2999321921 abstract "Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic condition characterised by progressive extra-skeletal bone formation in connective tissues. Over time, heterotopic ossification entombs patients within a second skeleton, drastically impairing their mobility and autonomy. Mutations in the ACVR1 gene have been identified as the cause of FOP. The single nucleotide missense mutation in ACVR1 , c.617G > A, causes a single amino acid substitution, p.R206H, and is found in >90% of all patients. Heterotopic bone formation in FOP mimics embryonic skeletal endochondral ossification, with cartilage forming after fibroproliferative tissue condensation as an intermediate stage prior to osteogenesis and tissue ossification. In contrast to normal embryonic endochondral ossification, heterotopic ossification in FOP involves an inflammatory phase that precedes cartilage and bone formation. New insights into the mechanisms of action of heterotopic bone formation in FOP have led to the discovery of new potential treatment targets including inhibitors of BMP signalling, activin A inhibitors, and mTOR inhibitors. This review summarises the current knowledge on mutations causing FOP, as well as the molecular basis of heterotopic ossification and the therapeutic options that result from these discoveries." @default.
• W2999321921 created "2020-01-23" @default.
• W2999321921 creator A5019206850 @default.
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• W2999321921 creator A5056597436 @default.
• W2999321921 date "2019-12-01" @default.
• W2999321921 modified "2023-09-23" @default.
• W2999321921 title "Genetics and future therapy prospects of fibrodysplasia ossificans progressiva" @default.
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• W2999321921 doi "https://doi.org/10.1007/s11825-019-00279-y" @default.
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