ArticlePloS one2009
Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 91 citations in OpenAlex.
- Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.European journal of pediatrics · 2026Article
- Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.Journal of applied genetics · 2026Review
- A bibliometric analysis of progress and trends in pediatric glioma research.Discover oncology · 2026Article
- Review
- Immunologic Aspects in Fibrodysplasia Ossificans Progressiva.Biomolecules · 2024Review
- Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.Orthopaedic surgery · 2024Article
- Review
- A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.Nature communications · 2023Article
- Recent progress in drug development for fibrodysplasia ossificans progressiva.Molecular and cellular biochemistry · 2022Review
- Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1.The Journal of clinical investigation · 2022Article
- Review
- Review
- Macrophages in heterotopic ossification: from mechanisms to therapy.NPJ Regenerative medicine · 2021Review
- Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.Biomedicines · 2021Review
- Fibrodysplasia ossificans progressiva: current concepts from bench to bedside.Disease models & mechanisms · 2020Review
- Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China.World journal of pediatrics : WJP · 2020Article
- ACVR1 Function in Health and Disease.Cells · 2019Review
- Analysis of biological networks in the endothelium with biomimetic microsystem platform.American journal of physiology. Lung cellular and molecular physiology · 2019Article
- The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.Bioscience reports · 2019Review
- Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there is severe advancement of disability with age. FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. Very recently two other mutations have been described in three FOP patients. We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. The observation of disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation and provides a potential rationale for phenotypic variation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.