During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5–1/100 newborns
and as a group they represent the most frequent cause for chronic kidney failure in children …

Background Sex differences have been increasingly recognized as important in kidney
physiology and pathophysiology, but limited resources are available for comprehensive …

Background Hepatocyte NF 4α (Hnf4a) is a major regulator of renal proximal tubule (PT)
development. In humans, a mutation in HNF4A impairs PT functions and is associated with …

Background Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are
the most common inherited cause of renal malformations, yet also associated with renal …

The adult mammalian kidney is a poorly regenerating organ that lacks the stem cells that
could replenish functional homeostasis similarly to, eg, skin or the hematopoietic system …

Introduction In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B)
are responsible for a dominant inherited disease with both renal and extrarenal phenotypes …

Diabetes Mellitus (DM) is a complex disease with a significant impact in today's world.
Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of …

Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders
with a bland urinary sediment, slowly progressive chronic kidney disease (CKD), and …

Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential
for normal kidney development. Mutations of HNF1B in humans produce cystic kidney …