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Article

Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.

The Iowa orthopaedic journal - 1 Jan 1999

Stevens J W

Abstract excerpt

Lamellar inclusions of the rough endoplasmic reticulum in growth plate chondrocytes, first identified (1972) in the Department of Orthopaedic Surgery, University of Iowa, has become the cytochemical hallmark for the pseudoachondroplastic dysplasia (PSACH) phenotype, linking an endoplasmic reticulum storage disorder with the osteochondrodysplasia. Since this original observation, great advances have been made,...

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Identifiers

PMID: 10847517
PMCID: PMC1888613

Genes

COMP

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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.

Related research

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Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.PMID 10847517Read ↗

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

The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).Semantic proximity Read ↗

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

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.Semantic proximity Read ↗

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Semantic proximity Read ↗

Novel therapeutic interventions for pseudoachondroplasia.Semantic proximity Read ↗

COMP mutations, chondrocyte function and cartilage matrix.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 ↗

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

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

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

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