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Article

Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.

Biochemical and biophysical research communications - 14 May 1993

Holderbaum D, Malemud C J, Moskowitz R W, Haqqi T M

Abstract excerpt

A single base change resulting in the substitution of Cys for Arg at position 519 of the type II collagen triple helix is a predisposing factor in the pathogenesis of a precocious-onset form of familial osteoarthritis associated with a mild chondrodysplasia. Cartilage obtained at the time of total knee replacement in a patient with the Arg-Cys519 mutation was used to investigate the expression of Col2A1 alleles....

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Identifiers

PMID: 8507190
DOI: 10.1006/bbrc.1993.1539

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.PMID 8507190Read ↗

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.Semantic proximity Read ↗

Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.Semantic proximity Read ↗

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.Semantic proximity Read ↗

An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.Semantic proximity Read ↗

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.Semantic proximity Read ↗

A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice.Semantic proximity Read ↗

Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.Semantic proximity Read ↗

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.Semantic proximity Read ↗

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Clinical correlations of osteoarthritis associated with single base mutations in the type II procollagen gene.Semantic proximity Read ↗

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.Semantic proximity Read ↗

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.Semantic proximity Read ↗

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