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Article

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia.

The Journal of biological chemistry - 5 Dec 1997

Maddox B K, Keene D R, Sakai L Y, Charbonneau N L, Morris N P, Ridgway C C, Boswell B A, Sussman M D, Horton W A, Bächinger H P, Hecht J T

Abstract excerpt

We have identified a novel missense mutation in a pseudoachondroplasia (PSACH) patient in one of the type III repeats of cartilage oligomeric matrix protein (COMP). Enlarged lamellar rough endoplasmic reticulum vesicles were shown to contain accumulated COMP along with type IX collagen, a cartila...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9388247
DOI: 10.1074/jbc.272.49.30993

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9388247-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia.PMID 9388247Read ↗

Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion.Semantic proximity Read ↗

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.Semantic proximity Read ↗

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.Semantic proximity Read ↗

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues.Semantic proximity Read ↗

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathwaysSemantic proximity Read ↗

Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.Semantic proximity Read ↗

Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.Semantic proximity Read ↗

COMP mutations, chondrocyte function and cartilage matrix.Semantic proximity Read ↗

Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.Semantic proximity Read ↗

Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.Semantic proximity Read ↗

An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.Semantic proximity Read ↗

Role of TSP-5/COMP in pseudoachondroplasia.Semantic proximity Read ↗

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