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Article

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.

Human molecular genetics - 1 Nov 1999

Simmons A D, Musy M M, Lopes C S, Hwang L Y, Yang Y P, Lovett M

Abstract excerpt

Hereditary multiple exostoses (HME) is an autosomal dominant condition in which bony outgrowths occur from the juxtaepiphyseal regions of the long bones. In a few percent of cases these exostoses undergo malignant transformation to chondrosarcomas. HME results from mutations in one of two homologous genes, EXT1 and EXT2. These are members of a new gene family that is conserved from Caenorhabditis elegans to...

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Share to Exostoses, Multiple Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10545594
DOI: 10.1093/hmg/8.12.2155

Genes

EXT2
EXT1

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

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A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.PMID 10545594Read ↗

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.Semantic proximity Read ↗

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

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

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

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

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

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

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.Semantic proximity Read ↗

Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice.Semantic proximity Read ↗

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

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.Semantic proximity Read ↗

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

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