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

Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.

Journal of the American Heart Association - 2 Dec 2014

Mooij H L, Cabrales P, Bernelot Moens S J, Xu D, Udayappan S D, Tsai A G, van der Sande M A J, de Groot E, Intaglietta M, Kastelein J J P, Dallinga-Thie G M, Esko J D, Stroes E S, Nieuwdorp M

Abstract excerpt

BACKGROUND: Heparanase is the major enzyme involved in degradation of endothelial heparan sulfates, which is associated with impaired endothelial nitric oxide synthesis. However, the effect of heparan sulfate chain length in relation to endothelial function and nitric oxide availability has never been investigated. We studied the effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2...

Read the complete abstract on PubMed

Topics

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

Share to Brachial Artery
Share to Exostoses, Multiple Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostosin 1

Share to Exostosin 2

Share to N-Acetylglucosaminyltransferases

Share to Nitric Oxide

Share to Nitric Oxide Synthase Type III

Share to Vasodilation

Source

Open in PubMed Open full text

Identifiers

PMID: 25468659
DOI: 10.1161/JAHA.114.001274
PMCID: PMC4338717

Genes

EXT1
EXT2

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

Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.PMID 25468659Read ↗

Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.Semantic proximity Read ↗

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.Semantic proximity Read ↗

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

Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier.Semantic proximity Read ↗

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

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

Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains.Semantic proximity Read ↗

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

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

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

Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application.Semantic proximity Read ↗

Heparan Sulphate Biosynthesis and DiseaseSemantic proximity Read ↗

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