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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2014

Farber Charles R, Reich Adi, Barnes Aileen M, Becerra Patricia, Rauch Frank, Cabral Wayne A, Bae Alison, Quinlan Aaron, Glorieux Francis H, Clemens Thomas L, Marini Joan C

Abstract excerpt

Osteogenesis imperfecta (OI) types V and VI are caused, respectively, by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm-like protein most strongly expressed in the skeletal system, and recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24519609
DOI: 10.1002/jbmr.2173
PMCID: PMC4352343

Genes

IFITM5
SERPINF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24519609-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.PMID 24519609Read ↗

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New Genes in Bone Development: What's New in Osteogenesis ImperfectaSemantic proximity Read ↗

Lack of expression of <i>SERPINF1</i>, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagenSemantic proximity Read ↗

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