Chronic kidney disease can progress to end-stage chronic renal disease (ESRD), which
requires the use of replacement therapy (dialysis or kidney transplant) in life-threatening …

Introduction: Chronic kidney disease (CKD) is a major public health issue in the USA.
Identification of monogenic causes of CKD, which are present in∼ 10% of adult cases, can …

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 …

Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-
stage renal disease in children. The main forms, juvenile and adult NPH, are characterized …

Uromodulin (UMOD) is a major risk gene for monogenic and complex forms of kidney
disease. The encoded kidney-specific protein uromodulin is highly abundant in urine 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 …

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 …

The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in
protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …

There have been few clinical or scientific reports of autosomal dominant tubulointerstitial
kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further …