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Article

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Cell and tissue research - 1 Jan 2010

Marini Joan C, Cabral Wayne A, Barnes Aileen M

Abstract excerpt

Classical osteogenesis imperfecta (OI) is a dominant genetic disorder of connective tissue caused by mutations in either of the two genes encoding type I collagen, COL1A1 and COL1A2. Recent investigations, however, have generated a new paradigm for OI incorporating many of the prototypical features that distinguish dominant and recessive conditions, within a type I collagen framework. We and others have shown...

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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: 19862557
DOI: 10.1007/s00441-009-0872-0
PMCID: PMC3156555

Genes

CRTAP
PPIB

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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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.PMID 19862557Read ↗

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

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

Bone collagen: new clues to its mineralization mechanism from recessive 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 ↗

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.Semantic proximity Read ↗

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

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Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findingsSemantic proximity Read ↗

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.Semantic proximity Read ↗

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

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