Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease
are caused by mutations in Pkd1/Pkd2 and Pkhd1, which encode polycystins (PCs) and …

Autosomal recessive polycystic kidney disease is caused by mutations in PKHD1, which
encodes the membrane-associated receptor-like protein fibrocystin/polyductin (FPC). FPC …

Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the
kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes …

Recent developments have helped elucidate the function of the autosomal dominant
polycystic kidney disease proteins, polycystin-1 and polycystin-2, and have revealed the …

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

Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the
polycystic kidney and hepatic disease (PKHD1) gene encoding the protein …

Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive
polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the …

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited
nephropathy responsible for 4%–10% of end-stage renal disease cases. Mutations in the …

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited
childhood nephropathy (∼ 1: 20,000 live births) characterized by fusiform dilatation of …

Recent evidence suggests that fibrocystin/polyductin (FPC), polycystin-1 (PC1), and
polycystin-2 (PC2) are all localized at the plasma membrane and the primary cilium, where …