ArticleJournal of human genetics2007
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
Article in Journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 44 citations in OpenAlex.
- ACVR1 Function in Health and Disease.Cells · 2019Review
- The biological function of type I receptors of bone morphogenetic protein in bone.Bone research · 2016Review
- Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America).BMJ case reports · 2015Article
- Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.Human genome variation · 2015Article
- Structure-activity relationship of 3,5-diaryl-2-aminopyridine ALK2 inhibitors reveals unaltered binding affinity for fibrodysplasia ossificans progressiva causing mutants.Journal of medicinal chemistry · 2014Article
- Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.Molecular syndromology · 2014Review
- Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.Cell journal · 2014Article
- Multipotent progenitors resident in the skeletal muscle interstitium exhibit robust BMP-dependent osteogenic activity and mediate heterotopic ossification.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012Article
- Article
- Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.Clinical rheumatology · 2010Article
- ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.Journal of Korean medical science · 2009Article
- Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.The Journal of biological chemistry · 2009Article
- Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.European journal of human genetics : EJHG · 2009Article
- Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.PloS one · 2009Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and presents progressive extra-skeletal ossification. The 617G>A (R206H) mutation in the activin receptor type IA (ACVR1) gene has been identified in all examined individuals with FOP of various ethnic groups, including Caucasian and Chinese descents. Here, we examined three Japanese patients with FOP for ACVR1 mutations. We identified the 617G>A mutation in all three patients. Our results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.
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