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 …

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional
cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are …

Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary
immunodeficiency syndrome associated with increased apoptosis in myeloid cells,, yet the …

When we edited in 2007 the first issue on transient receptor potential channel in the
Handbook of Experimental Pharmacology, we were all very excited by the progress in this …

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

Polycystins are a family of eight-transmembrane proteins united by sequence homology.
The name stems from the identification of mutations in genes encoding polycystin-1 and-2 in …

The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Omi/HtrA2 is a nuclear-encoded mitochondrial serine protease that has a pro-apoptotic
function in mammalian cells. Upon induction of apoptosis, Omi translocates to the cytoplasm …

The Kaposi's sarcoma-associated herpesvirus (KSHV)(or human herpesvirus 8) open
reading frame (ORF) K15 encodes a putative integral transmembrane protein in the same …

Mutations in polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease. A
function for PC2 in the heart has not been described. Here, we show that PC2 …