Article
Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans.
Journal of the American Society of Nephrology : JASN - 1 Mar 2005
Wolf Matthias T F, Lee Jeeyong, Panther Franziska, Otto Edgar A, Guan Kun-Liang, Hildebrandt Friedhelm
Abstract excerpt
Nephronophthisis (NPHP), an autosomal-recessive cystic kidney disease, is the most frequent genetic cause of end-stage renal failure in children. NPHP types 1 and 4 are caused by mutations in NPHP1 and NPHP4, encoding the proteins nephrocystin-1 and nephrocystin-4, respectively. Nephrocystin-1 and nephrocystin-4 are expressed in primary cilia of renal epithelial cells. NPHP1 and NPHP4 are highly conserved in...
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