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Article

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

The New England journal of medicine - 11 Feb 2010

Barnes Aileen M, Carter Erin M, Cabral Wayne A, Weis MaryAnn, Chang Weizhong, Makareeva Elena, Leikin Sergey, Rotimi Charles N, Eyre David R, Raggio Cathleen L, Marini Joan C

Abstract excerpt

Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and pro...

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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: 20089953
DOI: 10.1056/NEJMoa0907705
PMCID: PMC3156560

Genes

CRTAP
PPIB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20089953-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.PMID 20089953Read ↗

Severe osteogenesis imperfecta in cyclophilin B-deficient mice.Semantic proximity Read ↗

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.Semantic proximity Read ↗

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Semantic proximity Read ↗

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.Semantic proximity Read ↗

Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.Semantic proximity Read ↗

Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.Semantic proximity Read ↗

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.Semantic proximity Read ↗

PPIB mutations cause severe osteogenesis imperfecta.Semantic proximity Read ↗

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.Semantic proximity Read ↗

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfectaSemantic proximity Read ↗

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.Semantic proximity Read ↗

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