Associations of urinary uromodulin with clinical characteristics and markers of tubular function in the general population

M Pruijm, B Ponte, D Ackermann… - Clinical journal of the …, 2016 - journals.lww.com
Results In both studies, positive associations were found between uromodulin and urinary
sodium, chloride, and potassium excretion and osmolality. In SKIPOGH, 24-hour uromodulin …

Insights into kidney diseases from genome-wide association studies

M Wuttke, A Köttgen - Nature Reviews Nephrology, 2016 - nature.com
Over the past decade, genome-wide association studies (GWAS) have considerably
improved our understanding of the genetic basis of kidney function and disease. Population …

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

E Olinger, C Schaeffer, K Kidd… - Proceedings of the …, 2022 - National Acad Sciences
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein
excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant …

Genetic basis of blood pressure and hypertension

S Padmanabhan, C Newton-Cheh, AF Dominiczak - Trends in Genetics, 2012 - cell.com
Blood pressure (BP) is a complex trait regulated by an intricate network of physiological
pathways involving extracellular fluid volume homeostasis, cardiac contractility and vascular …

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

M Brunati, S Perucca, L Han, A Cattaneo, F Consolato… - Elife, 2015 - elifesciences.org
Uromodulin is the most abundant protein in the urine. It is exclusively produced by renal
epithelial cells and it plays key roles in kidney function and disease. Uromodulin mainly …

[HTML][HTML] The hidden hand of chloride in hypertension

L McCallum, S Lip, S Padmanabhan - Pflügers Archiv-European Journal …, 2015 - Springer
Among the environmental factors that affect blood pressure, dietary sodium chloride has
been studied the most, and there is general consensus that increased sodium chloride …

New insights into the role of HNF-1β in kidney (patho) physiology

S Ferrè, P Igarashi - Pediatric Nephrology, 2019 - Springer
Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the
development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract …

Metabolomic identification of a novel pathway of blood pressure regulation involving hexadecanedioate

C Menni, D Graham, G Kastenmüller, NHJ Alharbi… - …, 2015 - Am Heart Assoc
High blood pressure is a major contributor to the global burden of disease and discovering
novel causal pathways of blood pressure regulation has been challenging. We tested blood …

Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity

X Gu, H Yang, X Sheng, YA Ko, C Qiu, J Park… - Science translational …, 2021 - science.org
More than 800 million people in the world suffer from chronic kidney disease (CKD).
Genome-wide association studies (GWAS) have identified hundreds of loci where genetic …

Hypertension: Current trends and future perspectives

PG Hunter, FA Chapman… - British Journal of Clinical …, 2021 - Wiley Online Library
Hypertension is a significant and increasing global health issue. It is a leading cause of
cardiovascular disease and premature death worldwide due to its effects on end organs …