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Article

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.

Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 2010

Matsumoto Kazu, Irie Fumitoshi, Mackem Susan, Yamaguchi Yu

Abstract excerpt

Multiple hereditary exostoses (MHE) is one of the most common skeletal dysplasias, exhibiting the formation of multiple cartilage-capped bony protrusions (osteochondroma) and characteristic bone deformities. Individuals with MHE carry heterozygous loss-of-function mutations in Ext1 or Ext2, genes which together encode an enzyme essential for heparan sulfate synthesis. Despite the identification of causative...

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Identifiers

PMID: 20534475
DOI: 10.1073/pnas.0914642107
PMCID: PMC2890731

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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.

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A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.PMID 20534475Read ↗

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Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.Semantic proximity Read ↗

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Semantic proximity Read ↗

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EXT genes are differentially expressed in bone and cartilage during mouse embryogenesisSemantic proximity Read ↗

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