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Article

PPIB mutations cause severe osteogenesis imperfecta.

American journal of human genetics - 1 Oct 2009

van Dijk Fleur S, Nesbitt Isabel M, Zwikstra Eline H, Nikkels Peter G J, Piersma Sander R, Fratantoni Silvina A, Jimenez Connie R, Huizer Margriet, Morsman Alice C, Cobben Jan M, van Roij Mirjam H H, Elting Mariet W, Verbeke Jonathan I M L, Wijnaendts Liliane C D, Shaw Nick J, Högler Wolfgang, McKeown Carole, Sistermans Erik A, Dalton Ann, Meijers-Heijboer Hanne, Pals Gerard

Abstract excerpt

Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position...

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Source

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Identifiers

PMID: 19781681
DOI: 10.1016/j.ajhg.2009.09.001
PMCID: PMC2756556

Genes

CRTAP
PPIB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19781681-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

PPIB mutations cause severe osteogenesis imperfecta.PMID 19781681Read ↗

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.Semantic proximity Read ↗

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

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

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

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.Semantic proximity Read ↗

Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone DevelopmentSemantic proximity Read ↗

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

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.Semantic proximity Read ↗

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

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

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

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