Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2000

Legeai-Mallet L, Rossi A, Benoist-Lasselin C, Piazza R, Mallet J F, Delezoide A L, Munnich A, Bonaventure J, Zylberberg L

Abstract excerpt

Hereditary multiple exostoses (HME), an autosomal skeletal disorder characterized by cartilage-capped excrescences, has been ascribed to mutations in EXT 1 and EXT 2, two tumor suppressor-related genes encoding glycosyltransferases involved in the heparan sulfate proteoglycan (HSPG) biosynthesis. Taking advantage of the availability of three different exostoses from a patient with HME harboring a premature...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cartilage
Share to Chondrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostoses, Multiple Hereditary

Share to Exostosin 1

Share to Hand Deformities, Congenital

Share to N-Acetylglucosaminyltransferases

Share to Proteoglycans

Source

Identifiers

PMID: 10934647
DOI: 10.1359/jbmr.2000.15.8.1489

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.PMID 10934647Read ↗

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

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

Genotype-phenotype correlation in hereditary multiple exostoses.Semantic proximity Read ↗

Heparan sulfate abnormalities in exostosis growth plates.Semantic proximity Read ↗

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

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic patternSemantic 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 ↗

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

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

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.