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Article

IFITM5 mutations and osteogenesis imperfecta.

Journal of bone and mineral metabolism - 1 Mar 2016

Hanagata Nobutaka

Abstract excerpt

Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in...

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Source

Identifiers

PMID: 26031935
DOI: 10.1007/s00774-015-0667-1

Genes

IFITM5

Variants

Provenance

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.

Related research

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IFITM5 mutations and osteogenesis imperfecta.PMID 26031935Read ↗

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 MutationSemantic proximity Read ↗

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.Semantic proximity Read ↗

A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.Semantic proximity Read ↗

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.Semantic proximity Read ↗

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice.Semantic proximity Read ↗

A brilliant breakthrough in OI type V.Semantic proximity Read ↗

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

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Semantic proximity Read ↗

Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.Semantic proximity Read ↗

Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.Semantic proximity Read ↗

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.Semantic proximity Read ↗

Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.Semantic proximity Read ↗

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