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NARA Subscribed1
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Springer Nature1
Journal
Molecular Genetics and Genomics1
Publication Year
20221
J. van Marsdijk results 1 · Newest (Page 1/1, per page 25)
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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 barrierNARA Subscribed
Molecular Genetics and Genomics · 2022 · Vol. 297 · Issue 2 · Springer
Ramzi Khalil; Margien G. S. Boels; A. Bezuijen; J. E. Boers; P. C. de Bruin; M. A. A. M. van Dijk; P. Drillenburg; A. F. Hamel; H. M. Hazelbag; G. N. Jonges; R. E. Kibbelaar; K. H. Lam; H. van der Linden; J. van Marsdijk; C. Meijer; I. D. Nagtegaal; J. J. Oudejans; J. J. T. H. Roelofs; L. Rozendaal; S. H. Sastrowijoto; M. M. Smits; J. Stavast; Bernard M. van den Berg; Jan A. Bruijn; Ton J. Rabelink; Pancras C. W. Hogendoorn; Hans J. Baelde
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 of HS results i...
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