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Article

Heparan sulfate abnormalities in exostosis growth plates.

Bone - 1 Jul 2002

Hecht J T, Hall C R, Snuggs M, Hayes E, Haynes R, Cole W G

Abstract excerpt

Hereditary multiple exostoses (HME), a condition associated with development and growth of bony exostoses at the ends of the long bones, is caused by germline mutations in the EXT genes. EXT1 and EXT2 function as glycosyltransferases that participate in the biosynthesis of heparan sulfate (HS) to...

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Source

Identifiers

PMID: 12110435
DOI: 10.1016/s8756-3282(02)00796-2

Genes

EXT1
EXT2
PLN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12110435-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Heparan sulfate abnormalities in exostosis growth plates.PMID 12110435Read ↗

Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostosesSemantic proximity Read ↗

Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.Semantic proximity Read ↗

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

Mice deficient in Ext2 lack heparan sulfate and develop exostosesSemantic proximity Read ↗

Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosisSemantic proximity Read ↗

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Semantic proximity Read ↗

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

The molecular and cellular basis of exostosis formation in hereditary multiple exostosesSemantic proximity Read ↗

Hereditary multiple exostoses and heparan sulfate polymerization.Semantic proximity Read ↗

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.Semantic proximity Read ↗

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

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

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