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Article

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions

6 Mar 2007

Abstract excerpt

BACKGROUND: Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all osteochondromas present as solitary (nonhereditary) lesions in which somatic mutations in EXT1 are extremely rare, but loss of heterozygosity and clonal...

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Identifiers

PMID: 17341731
DOI: 10.1093/jnci/djk067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous DeletionsPMID 17341731Read ↗

Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas.Semantic proximity Read ↗

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromasSemantic proximity Read ↗

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).Semantic proximity Read ↗

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.Semantic proximity Read ↗

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.Semantic proximity Read ↗

Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.Semantic proximity Read ↗

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromasSemantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Semantic proximity Read ↗

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients.Semantic proximity Read ↗

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

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.Semantic proximity Read ↗

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.Semantic proximity Read ↗

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