Article
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2009
Gigante Maddalena, Pontrelli Paola, Montemurno Eustacchio, Roca Leonarda, Aucella Filippo, Penza Rosa, Caridi Gianluca, Ranieri Elena, Ghiggeri Gian Marco, Gesualdo Loreto
Abstract excerpt
BACKGROUND: CD2-associated protein (CD2AP) is a crucial protein for the slit-diaphragm assembly and function. In spite of the fact that CD2AP knockout causes nephrotic syndrome in mice and the heterozygous +/- mouse is prone to proteinuria, little is known about the relevance of this molecule in human renal pathology. METHODS: A total of 80 Italian patients with idiopathic nephrotic syndrome were enrolled and...
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