Uromodulin: roles in health and disease

C Schaeffer, O Devuyst… - Annual review of …, 2021 - annualreviews.org
Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …

Role of uromodulin in salt-sensitive hypertension

S Mary, P Boder, S Padmanabhan, MW McBride… - …, 2022 - Am Heart Assoc
The exclusive expression of uromodulin in the kidneys has made it an intriguing protein in
kidney and cardiovascular research. Genome-wide association studies discovered variants …

[HTML][HTML] 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 …

[HTML][HTML] Meta-GWAS reveals novel genetic variants associated with urinary excretion of uromodulin

CB Joseph, M Mariniello, A Yoshifuji… - Journal of the …, 2022 - journals.lww.com
Background Uromodulin, the most abundant protein excreted in normal urine, plays major
roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of …

Molecular mechanisms of renal magnesium reabsorption

DH Ellison, Y Maeoka… - Journal of the American …, 2021 - journals.lww.com
Magnesium is an essential cofactor in many cellular processes, and aberrations in
magnesium homeostasis can have life-threatening consequences. The kidney plays a …

[HTML][HTML] Molecular basis, diagnostic challenges and therapeutic approaches of Bartter and Gitelman syndromes: a primer for clinicians

L Nuñez-Gonzalez, N Carrera… - International Journal of …, 2021 - mdpi.com
Gitelman and Bartter syndromes are rare inherited diseases that belong to the category of
renal tubulopathies. The genes associated with these pathologies encode electrolyte …

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

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 …

[HTML][HTML] Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas

WE Gordon, S Baek, HP Nguyen, YM Kuo… - Nature …, 2024 - nature.com
Frugivory evolved multiple times in mammals, including bats. However, the cellular and
molecular components driving it remain largely unknown. Here, we use integrative single …

Mechanistic interactions of uromodulin with the thick ascending limb: perspectives in physiology and hypertension

P Boder, S Mary, PB Mark, J Leiper… - Journal of …, 2021 - journals.lww.com
Hypertension is a significant risk factor for cardiovascular disease and mortality worldwide.
The kidney is a major regulator of blood pressure and electrolyte homeostasis, with …

NaCl cotransporter activity and Mg2+ handling by the distal convoluted tubule

Y Maeoka, JA McCormick - American Journal of Physiology …, 2020 - journals.physiology.org
The genetic disease Gitelman syndrome, knockout mice, and pharmacological blockade
with thiazide diuretics have revealed that reduced activity of the NaCl cotransporter (NCC) …