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Article

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2015

Lietman Caressa D, Marom Ronit, Munivez Elda, Bertin Terry K, Jiang Ming-Ming, Chen Yuqing, Dawson Brian, Weis Mary Ann, Eyre David, Lee Brendan

Abstract excerpt

Osteogenesis imperfecta (OI) type V is characterized by increased bone fragility, long bone deformities, hyperplastic callus formation, and calcification of interosseous membranes. It is caused by a recurrent mutation in the 5' UTR of the IFITM5 gene (c.-14C > T). This mutation introduces an alternative start codon, adding 5 amino acid residues to the N-terminus of the protein. The mechanism whereby this novel...

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Identifiers

PMID: 25251575
DOI: 10.1002/jbmr.2363
PMCID: PMC4333000

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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