Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace
normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease …

Cysts in the kidney are among the most common inherited human pathologies, and recent
research has uncovered that a defect in cilia-mediated signaling activity is a key factor that …

INTRODUCTION Mutations in two genes, PKD1 and PKD2, are responsible for about 85 and
10% of all cases of autosomal dominant polycystic kidney disease (ADPKD), one of the most …

Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a
genetically homogeneous disease caused by mutations in PKHD1, has been associated …

Polycystic kidney disease (ADPKD) results from failure of the kidney to properly maintain
three-dimensional structure after loss of either polycystin-1 or-2. Mice with kidney selective …

Polycystin-1, which is encoded by a gene that is mutated in autosomal dominant polycystic
kidney disease (ADPKD), is involved in cell-matrix interactions as well as in ciliary signaling …

During kidney organogenesis, tubular epithelial cells proliferate until a functional tubule is
formed as sensed by cilia bending in response to fluid flow. This flow-induced ciliary …

Molecular pathogenesis of ADPKD: The polycystin complex gets complex. Autosomal-
dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic …

The most severe form of autosomal dominant polycystic kidney disease occurs in patients
with mutations in the gene (PKD1) encoding polycystin-1 (PC1). PC1 is a complex polytopic …

The trafficking of ion channels to the plasma membrane is tightly controlled to ensure the
proper regulation of intracellular ion homeostasis and signal transduction. Mutations of …