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- W2040356400 abstract "Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by progressive heterotopic bone formation in skeletal muscle tissue. Patients with FOP show malformed digits, osteochondroma, and other skeletal abnormalities due to abnormal patterning during development. Heterozygous mutations in the Activin A receptor type I ( ACVR1) gene, which encodes the bone morphogenetic protein (BMP) type I receptor ALK2, have been identified in not only typical FOP patients but also patients with unusually mild or severe clinical features. The serine/threonine kinase activity of ALK2 may be constitutively activated by mutations in the GS domain or the kinase domain. Based on these findings, selective small chemical inhibitors and allele-specific RNAi approaches for mutant ALK2 have been developed for preventing heterotopic bone formation in FOP. Other novel treatments have also been reported to block heterotopic bone formation in patients with FOP. These findings open the door to the next step in FOP treatment and related research." @default.
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- W2040356400 date "2012-08-01" @default.
- W2040356400 modified "2023-10-16" @default.
- W2040356400 title "Recent topics in fibrodysplasia ossificans progressiva" @default.
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- W2040356400 doi "https://doi.org/10.1016/j.job.2012.03.004" @default.
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