The genetics of kidney stone disease and nephrocalcinosis

P Singh, PC Harris, DJ Sas, JC Lieske - Nature Reviews Nephrology, 2022 - nature.com
Kidney stones (also known as urinary stones or nephrolithiasis) are highly prevalent,
affecting approximately 10% of adults worldwide, and the incidence of stone disease is …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Etiopathogenic factors of urolithiasis

CA Wagner - Archivos espanoles de urologia, 2021 - zora.uzh.ch
INTRODUCTION Kidney stone disease affects 1 in 10 persons at least once per life-time
worldwide, in 2% the disease is recurrent. For the individual stone disease can be painful …

Learning physiology from inherited kidney disorders

J van der Wijst, H Belge, RJM Bindels… - Physiological …, 2019 - journals.physiology.org
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 …

UMOD and the architecture of kidney disease

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 …

Rare genetic causes of complex kidney and urological diseases

EE Groopman, G Povysil, DB Goldstein… - Nature Reviews …, 2020 - nature.com
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …

[HTML][HTML] Familial aggregation of CKD and heritability of kidney biomarkers in the general population: the lifelines cohort study

J Zhang, CHL Thio, RT Gansevoort… - American Journal of Kidney …, 2021 - Elsevier
Rationale & Objective Chronic kidney disease (CKD) has a heritable component. We aimed
to quantify familial aggregation of CKD in the general population and assess the extent to …

Evaluation of genetic kidney diseases in living donor kidney transplantation: towards precision genomic medicine in donor risk assessment

Y Caliskan, B Lee, AM Whelan, F Abualrub… - Current transplantation …, 2022 - Springer
Abstract Purpose of Review To provide a comprehensive update on the role of genetic
testing for the evaluation of kidney transplant recipient and living donor candidates. Recent …

Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes

T Corre, FJ Arjona, C Hayward… - Journal of the …, 2018 - journals.lww.com
Abstract Magnesium (Mg 2+) homeostasis is critical for metabolism. However, the genetic
determinants of the renal handling of Mg 2+, which is crucial for Mg 2+ homeostasis, and the …

The urinary excretion of uromodulin is regulated by the potassium channel ROMK

G Schiano, B Glaudemans, E Olinger, N Goelz… - Scientific reports, 2019 - nature.com
Uromodulin, the most abundant protein in normal urine, is produced by cells lining the thick
ascending limb (TAL) of the loop of Henle. Uromodulin regulates the activity of the …