O Devuyst, M Bochud, E Olinger - Pflügers Archiv-European Journal of …, 2022 - Springer
The identification of genetic factors associated with the risk, onset, and progression of kidney disease has the potential to provide mechanistic insights and therapeutic perspectives. In …
Estimated glomerular filtration rate (eGFR) impacts the concentration of plasma biomarkers confounding biomarker association studies of eGFR with reverse causation. To identify …
Urinary stone disease (USD) is a major health burden affecting over 10% of the United Kingdom population. While stone disease is associated with lifestyle, genetic factors also …
G Schiano, J Lake, M Mariniello… - EMBO molecular …, 2023 - embopress.org
Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …
R Thielemans, R Speeckaert, C Delrue, S De Bruyne… - Diagnostics, 2023 - mdpi.com
Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary protein in healthy individuals. Over the years, studies have revealed compelling …
T Robert, L Raymond, M Dancer, J Torrents… - Clinical Kidney …, 2024 - academic.oup.com
Background According to data from large national registries, almost 20%–25% of patients with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …
M Živná, KO Kidd, V Barešová… - American Journal of …, 2022 - Wiley Online Library
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout …
Background Cystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is …