This review focuses on the most recent advances in the understanding of the electrolyte
transport-related mechanisms important for the development of severe inherited renal …

Interactions between proteins and glycans are critical to various biological processes. With
databases of carbohydrate-interacting proteins and increasing amounts of structural data …

Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly
result from rare, autosomal recessively inherited pathogenic variants in genes encoding …

20 Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease 21
(ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis …

Background To investigate whether the novel mutation of PKHD1 could cause polycystic
kidney disease by affecting splicing with a recessive inheritance pattern. Methods A …

Autosomal recessive polycystic kidney disease is an early onset inherited hepatorenal
disorder affecting around 1 in 20,000 births with no approved specific therapies. The …

Background & Aims Autosomal recessive polycystic kidney disease (ARPKD) is caused by
mutations in PKHD1, encoding fibrocystin/polyductin (FPC). Severe disease occurs in …

Genetic kidney disease is the main cause of chronic kidney disease in children. While the
pathogenic genes associated with most genetic kidney diseases have been identified, the …

Ecdysis triggering hormone (ETH) plays an important role in molting, reproduction, and
courtship behavior in insects. To investigate the potential downstream pathways and genes …

Autosomal recessive polycystic kidney disease (ARPKD) is caused primarily by mutations in
PKHD1, encoding fibrocystin (FPC), but Pkhd1 mutant mice failed to reproduce the human …