Missense mutation in sterile α motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat
JH Brown, S Hoffmann, B Kra… - Journal of the …, 2005 - journals.lww.com
Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease
that leads to kidney failure in humans. In addition to the known causative genes PKD1 and
PKD2, there are mutations that result in cystic changes in the kidney, such as
nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney
disease. Recent efforts to improve the understanding of renal cystogenesis have been
greatly enhanced by studies in rodent models of PKD. Genetic studies in the (cy/+) rat …
that leads to kidney failure in humans. In addition to the known causative genes PKD1 and
PKD2, there are mutations that result in cystic changes in the kidney, such as
nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney
disease. Recent efforts to improve the understanding of renal cystogenesis have been
greatly enhanced by studies in rodent models of PKD. Genetic studies in the (cy/+) rat …