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

The prevalence of chronic kidney disease (CKD) is increasing worldwide. Although
hyperuricemia has been associated with CKD in many studies, it remains controversial …

High-resolution spatial transcriptomics enables mapping of RNA expression directly from
intact tissue sections; however, its utility for the elucidation of disease processes and …

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

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 …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

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 …

Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant
tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
cystic kidney disease, with patients often having a positive family history that is characterized …

Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary
protein in healthy individuals. Over the years, studies have revealed compelling …