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Article

Generalized connective tissue disease in Crtap-/- mouse.

PloS one - 11 May 2010

Baldridge Dustin, Lennington Jennifer, Weis MaryAnn, Homan Erica P, Jiang Ming-Ming, Munivez Elda, Keene Douglas R, Hogue William R, Pyott Shawna, Byers Peter H, Krakow Deborah, Cohn Daniel H, Eyre David R, Lee Brendan, Morello Roy

Abstract excerpt

Mutations in CRTAP (coding for cartilage-associated protein), LEPRE1 (coding for prolyl 3-hydroxylase 1 [P3H1]) or PPIB (coding for Cyclophilin B [CYPB]) cause recessive forms of osteogenesis imperfecta and loss or decrease of type I collagen prolyl 3-hydroxylation. A comprehensive analysis of the phenotype of the Crtap-/- mice revealed multiple abnormalities of connective tissue, including in the lungs, kidneys,...

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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: 20485499
DOI: 10.1371/journal.pone.0010560
PMCID: PMC2868021

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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Generalized connective tissue disease in Crtap-/- mouse.PMID 20485499Read ↗

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

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

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.Semantic proximity Read ↗

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

Null mutations in LEPRE1 and CRTAP cause severe recessive 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 ↗

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

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