Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant
disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the …

Polycystic kidney diseases (PKDs) represent a large group of progressive renal disorders
characterized by the development of renal cysts leading to end-stage renal disease …

The use of animal models in therapeutic development has long been the standard practice.
However, ethical concerns and the inherent species differences have prompted a …

Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-
interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial …

Autosomal recessive polycystic kidney disease (ARPKD; MIM# 263200) is a severe,
hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and …

Apoptosis is the process of programmed cell death. It is a ubiquitous, controlled process
consuming cellular energy and designed to avoid cytokine release despite activation of local …

Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal
recessive polycystic kidney disease (ARPKD). This disease is characterized by …

In autosomal dominant polycystic kidney disease (ADPKD), cysts accumulate and
progressively impair renal function. Mutations in PKD1 and PKD2 genes are causally linked …

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood
renal‐and liver‐related morbidity and mortality with variable disease expression. While most …

Primary cilia are dynamic, complex structures that contain> 500 proteins, including several
related to polycystic kidney disease. How these proteins target to cilia and assemble is …