Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.

doi:10.1002/jbmr.4711

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Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2022

Wentworth Kelly L, Lalonde Robert L, Groppe Jay C, Brewer Niambi, Moody Tania, Hansberry Steven, Taylor Kimberly E, Shore Eileen M, Kaplan Frederick S, Pignolo Robert J, Yelick Pamela C, Hsiao Edward C

Abstract excerpt

Bone morphogenetic protein (BMP) signaling is critical in skeletal development. Overactivation can trigger heterotopic ossification (HO) as in fibrodysplasia ossificans progressiva (FOP), a rare, progressive disease of massive HO formation. A small subset of FOP patients harboring the causative ACVR1R206H mutation show strikingly mild or delayed-onset HO, suggesting that genetic variants in the BMP pathway could...

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PMID: 36153796
DOI: 10.1002/jbmr.4711
PMCID: PMC9950781

Genes

ACVR1
ACVR2A
BMPR1A
BMP4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.PMID 36153796Read ↗

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