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

Molecular genetics and genomics : MGG - 1 Mar 2022

Khalil Ramzi, Boels Margien G S, van den Berg Bernard M, Bruijn Jan A, Rabelink Ton J, Hogendoorn Pancras C W, Baelde Hans J

Abstract excerpt

In this study, the effect of heterozygous germline mutations in the heparan sulfate (HS) glycosaminoglycan chain co-polymerases EXT1 and EXT2 on glomerular barrier function and the endothelial glycocalyx in humans is investigated. Heparan sulfate (HS) glycosaminoglycans are deemed essential to the glomerular filtration barrier, including the glomerular endothelial glycocalyx. Animal studies have shown that loss...

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Identifiers

PMID: 35103870
DOI: 10.1007/s00438-022-01854-w
PMCID: PMC8960589

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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.

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Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier.PMID 35103870Read ↗

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