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 …

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 …

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

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 …

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 …

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 …

Abstract In the 2017 Annual Report of the ERA-EDTA Registry, hypertension continues to be
the second or third most common cause of renal replacement therapy (RRT) in Europe, tied …

Background Patients with heterozygous inactivating mutations in DNAJB11 manifest with
cystic but not enlarged kidneys and renal failure in adulthood. Pathogenesis is proposed to …

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