Skip to main content
Fig. 1 | Cell Communication and Signaling

Fig. 1

From: A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease

Fig. 1

Identification of an OCRL inositol polyphosphate-5-phosphatase (ocrl1) mutation in a patient with Dent-2 Disease. A, Immunohistochemical staining shows minimal changes in nephropathy, and ocrl1 expression was observed in the tubules and glomeruli of the proband’s kidney. B, ocrl1 expression in the mouse kidney was assessed using immunofluorescence. C, Pedigree of the proband's family. Empty symbols represent normal individuals. Filled square indicates the proband. D, Whole exome sequencing identified a mutation resulting in the replacement of Histidine with Arginine at position 318 in ocrl1 in the proband. KO, knockout

Back to article page

Cell Communication and Signaling

ISSN: 1478-811X