ArticleClinical rheumatology2010
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
Article in Clinical rheumatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.Journal of applied genetics · 2026Review
- 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
- A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.Molecular genetics & genomic medicine · 2021Article
- Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.Biomedicines · 2021Review
- Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men.Biomedicines · 2020Review
- ACVR1 Function in Health and Disease.Cells · 2019Review
- The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.International journal of molecular sciences · 2018Review
- Fibrodysplasia ossificans progressiva: Basic understanding and experimental models.Intractable & rare diseases research · 2017Review
- The biological function of type I receptors of bone morphogenetic protein in bone.Bone research · 2016Review
- Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.Human genome variation · 2015Article
- TGF-β/BMP signaling and other molecular events: regulation of osteoblastogenesis and bone formation.Bone research · 2015Review
- Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.Molecular syndromology · 2014Review
- From mysteries to medicines: drug development for fibrodysplasia ossificans progressive.Expert opinion on orphan drugs · 2013Article
- Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis.Disease models & mechanisms · 2012Review
- Article
Corrections and comments
- Erratum issuedCorrection to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.2018 · Borcciadi R [corrected to Bocciard R]
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. We report the case of a Moroccan patient with FOP carrying a rarely occurring mutation of ACVR1 gene.
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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.