Until recently, significant advances in our understanding of the mechanisms of blood
pressure regulation arose from studies of monogenic forms of hypertension and …

Genome-wide association studies (GWAS) have identified loci for kidney disease, but the
causal variants, genes, and pathways remain unknown. Here we identify two kidney disease …

Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression
and, in disease research, can be particularly illuminating when using the tissues directly …

Uromodulin is the most abundant protein in human urine, and it forms filaments that
antagonize the adhesion of uropathogens; however, the filament structure and mechanism …

Hypertension affects over 1.2 billion individuals worldwide and has become the most critical
and expensive public health problem. Hypertension is a multifactorial disease involving …

Sodium is an essential nutrient. Increasing sodium intake is associated with increasing
blood pressure, whereas low sodium intake results in increased renin and aldosterone …

Transcription and translation require a high concentration of potassium across the entire tree
of life. The conservation of a high intracellular potassium was an absolute requirement for …

At least 10% of adults and nearly all children who receive renal-replacement therapy have
an inherited kidney disease. These patients rarely die when their disease progresses and …

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN) …