
Fulltext:
207187pub.pdf
Embargo:
until further notice
Size:
3.363Mb
Format:
PDF
Description:
publisher's version
Publication year
2019Source
Physiological Reviews, 99, 3, (2019), pp. 1575-1653ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Physiology
Journal title
Physiological Reviews
Volume
vol. 99
Issue
iss. 3
Page start
p. 1575
Page end
p. 1653
Subject
Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
The identification of genes causing inherited kidney diseases yielded crucial insights in the molecular basis of disease and improved our understanding of physiological processes that operate in the kidney. Monogenic kidney disorders are caused by mutations in genes coding for a large variety of proteins including receptors, channels and transporters, enzymes, transcription factors, and structural components, operating in specialized cell types that perform highly regulated homeostatic functions. Common variants in some of these genes are also associated with complex traits, as evidenced by genome-wide association studies in the general population. In this review, we discuss how the molecular genetics of inherited disorders affecting different tubular segments of the nephron improved our understanding of various transport processes and of their involvement in homeostasis, while providing novel therapeutic targets. These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epithelial differentiation and receptor-mediated endocytosis, or affecting the reabsorption of glucose, the handling of uric acid, and the reabsorption of sodium, calcium, and magnesium along the kidney tubule.
This item appears in the following Collection(s)
- Academic publications [227881]
- Electronic publications [107344]
- Faculty of Medical Sciences [86219]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.