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This paper clarifies the contribution of mutations in these four genes to the etiology of congenital nephrotic syndrome
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Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 2007; 119:e907-e919. This paper clarifies the contribution of mutations in these four genes to the etiology of congenital nephrotic syndrome.
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Podocin and mec-2 bind cholesterol to regulate the activity of associated ion channels
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This report demonstrates an interaction between podocin and cholesterol and shows that podocin regulates TRPC6 activity
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Huber TB, Schermer B, Muller RU, et al. Podocin and mec-2 bind cholesterol to regulate the activity of associated ion channels. Proc Natl Acad Sci U S A 2006; 103:17079-17086. This report demonstrates an interaction between podocin and cholesterol and shows that podocin regulates TRPC6 activity.
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Huber, T.B.1
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Nephrin ectodomain engagement results in src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization
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This paper helps to define mechanisms of podocyte cytoskeletal regulation by slit-diaphragm proteins
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Verma R, Kovari I, Soofi A, et al. Nephrin ectodomain engagement results in src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization. J Clin Invest 2006; 116:1346-1359. This paper helps to define mechanisms of podocyte cytoskeletal regulation by slit-diaphragm proteins.
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