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Article

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Orphanet journal of rare diseases - 18 Sept 2013

Giacopelli Francesca, Cappato Serena, Tonachini Laura, Mura Marzia, Di Lascio Simona, Fornasari Diego, Ravazzolo Roberto, Bocciardi Renata

Abstract excerpt

BACKGROUND: The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs). Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues. Several aspects of FOP...

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Identifiers

PMID: 24047559
DOI: 10.1186/1750-1172-8-145
PMCID: PMC4015442

Genes

ACVR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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