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Article

The Fibrodysplasia Ossificans Progressiva (FOP) mutation p.R206H in ACVR1 confers an altered ligand response.

Cellular signalling - 1 Jan 2017

Hildebrand Laura, Stange Katja, Deichsel Alexandra, Gossen Manfred, Seemann Petra

Abstract excerpt

Patients with Fibrodysplasia Ossificans Progressiva (FOP) suffer from ectopic bone formation, which progresses during life and results in dramatic movement restrictions. Cause of the disease are point mutations in the Activin A receptor type 1 (ACVR1), with p.R206H being most common. In this study we compared the signalling responses of ACVR1WT and ACVR1R206H to different ligands. ACVR1WT, but not ACVR1R206H...

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Share to Activin Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27713089
DOI: 10.1016/j.cellsig.2016.10.001

Genes

ACVR1
BMP2
BMP4
BMP6
BMP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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