Polycystic kidney diseases are inherited renal disorders due mainly to mutations in genes
that regulate the development and function of cells that line renal tubules. This review …

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 …

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 …

Several proteins implicated in the pathogenesis of polycystic kidney disease (PKD) localize
to cilia. Furthermore, cilia are malformed in mice with PKD with mutations in TgN737Rpw …

Recent evidence has suggested an association between structural and/or functional defects
in the primary apical cilium of vertebrate epithelia and polycystic kidney disease (PKD). In …

Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have
introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus …

Exosomes are small extracellular vesicles that are thought to participate in intercellular
communication. Recent work from our laboratory suggests that, in normal and cystic liver …

PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority
of autosomal polycystic kidney disease, a common inherited disease that causes …

PKD1 is the most common site for mutations in human autosomal dominant polycystic
kidney disease (ADPKD). ADPKD is characterized by progressive replacement of kidney …

Tuberous sclerosis is an autosomal dominant trait characterized by the development of
hamartomatous growths in many organs. Renal cysts are also a frequent manifestation …