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Article

Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.

The American journal of pathology - 1 Jan 2007

Merritt Thomas M, Bick Roger, Poindexter Brian J, Alcorn Joseph L, Hecht Jacqueline T

Abstract excerpt

Mutations in cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Because COMP exists as a homopentamer, only one mutant COMP subunit may result in an abnormal complex that is accumulated in expanded rough endoplasmic reticulum (rER) cisternae, a hallmark of PSACH. Type IX collagen and matrilin-3 (MATN3), also...

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Share to Achondroplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Collagen Type XI

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Source

Open in PubMed Open full text

Identifiers

PMID: 17200202
DOI: 10.2353/ajpath.2007.060530
PMCID: PMC1762700

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.

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Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.PMID 17200202Read ↗

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