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anillin fsgs

Rasheed A Gbadegesin, Gentzon Hall, Adebowale Adeyemo, Nils Hanke, Irini Tossidou, James Burchette, Guanghong Wu, Alison Homstad, Matthew A Sparks, Jose Gomez, Ruiji Jiang, Andrea Alonso, Peter Lavin, Peter Conlon, Ron Korstanje, M Christine Stander, Ghaidan Shamsan, Moumita Barua, Robert Spurney, Pravin C Singhal, Jeffrey B Kopp, Hermann Haller, David Howell, Martin R Pollak, Andrey S Shaw, Mario Schiffer, Michelle P Winn
FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the podocyte, as a major factor in disease pathogenesis. Using a combination of genome-wide linkage studies and whole-exome sequencing in a kindred with familial FSGS, we identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS...
September 2014: Journal of the American Society of Nephrology: JASN
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