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Article

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Nature genetics - 1 Sept 1993

Warman M L, Abbott M, Apte S S, Hefferon T, McIntosh I, Cohn D H, Hecht J T, Olsen B R, Francomano C A

Abstract excerpt

The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification, such as growth plates. The precise function of type X collagen is unknown but the tissue-specific expression prompted us to examine the gene in hereditary disorders of cartilage and bone growth (osteochondrodysplasias). We have identified a 13 base pair deletion in one type X collagen...

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PMID: 8220429
DOI: 10.1038/ng0993-79

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

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Related research

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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.PMID 8220429Read ↗

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.Semantic proximity Read ↗

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.Semantic proximity Read ↗

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.Semantic proximity Read ↗

Phenotypic and biochemical consequences of collagen X mutations in mice and humans.Semantic proximity Read ↗

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.Semantic proximity Read ↗

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.Semantic proximity Read ↗

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease.Semantic proximity Read ↗

Heritable diseases of cartilage caused by mutations in collagen genes.Semantic proximity Read ↗

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