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Article

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.

The Journal of clinical investigation - 1 Nov 2009

Shen Qi, Little Shawn C, Xu Meiqi, Haupt Julia, Ast Cindy, Katagiri Takenobu, Mundlos Stefan, Seemann Petra, Kaplan Frederick S, Mullins Mary C, Shore Eileen M

Abstract excerpt

Patients with classic fibrodysplasia ossificans progressiva, a disorder characterized by extensive extraskeletal endochondral bone formation, share a recurrent mutation (R206H) within the glycine/serine-rich domain of ACVR1/ALK2, a bone morphogenetic protein type I receptor. Through a series of in vitro assays using several mammalian cell lines and chick limb bud micromass cultures, we determined that mutant...

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Activin Receptors, Type I
Body Patterning
Bone Morphogenetic Proteins
Chick Embryo
Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myositis Ossificans

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Identifiers

PMID: 19855136
DOI: 10.1172/JCI37412
PMCID: PMC2769180

Genes

ACVR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.PMID 19855136Read ↗

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Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.Semantic proximity Read ↗

Reduced GS domain serine/threonine requirements of Fibrodysplasia Ossificans Progressiva mutant type I BMP receptor ACVR1 in the zebrafishSemantic proximity Read ↗

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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.Semantic proximity Read ↗

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