Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 Apr 2006

Merritt Thomas M, Alcorn Joseph L, Haynes Richard, Hecht Jacqueline T

Abstract excerpt

Over 70 mutations in the cartilage oligomeric matrix protein (COMP), a large extracellular pentameric glycoprotein synthesized by chondrocytes, have been identified as causing two skeletal dysplasias: multiple epiphyseal dysplasia (MED/EDM1), and a dwarfing condition, pseudoachondroplasia (PSACH). These mutations induce misfolding of intracellular COMP, resulting in retention of the protein in the rough...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Achondroplasia
Share to Cartilage Oligomeric Matrix Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chondrocytes

Share to Collagen Type IX

Share to Endoplasmic Reticulum

Share to Extracellular Matrix Proteins

Share to Glycoproteins

Share to Matrilin Proteins

Source

Identifiers

PMID: 16514635
DOI: 10.1002/jor.20100

Genes

COMP
MATN3

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.PMID 16514635Read ↗

COMP mutations, chondrocyte function and cartilage matrix.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 ↗

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

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

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

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

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

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

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.Semantic 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 ↗

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

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

⌁Select a neighboring publication to make it the new centre.