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The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost
Membrane-associated guanylate kinase (Maguk) proteins are scaffold proteins that contain PSD-95–Discs Large–zona occludens-1 (PDZ), Src homology 3, and guanylate kinase domains. A subset of MagukExpand
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, weExpand
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosityExpand
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The spectrum of podocytopathies: a unifying view of glomerular diseases.
Glomerular diseases encompass a broad array of clinicopathologically defined syndromes which together account for 90% of end-stage kidney disease costing $20 billion per annum to treat in the UnitedExpand
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however,Expand
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Fyn Binds to and Phosphorylates the Kidney Slit Diaphragm Component Nephrin*
Recent investigations have focused on characterizing the molecular components of the podocyte intercellular junction, because several of these components, including Nephrin, are functionallyExpand
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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS areExpand
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Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat.
BACKGROUND Podocytes are highly differentiated glomerular epithelial cells with limited potential to divide. They are responsible for maintaining and supporting the glomerular basement membrane so asExpand
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Podocyte‐specific expression of cre recombinase in transgenic mice
Summary: We report a transgenic mouse line that expresses Cre recombinase exclusively in podocytes. Twenty‐ four transgenic founders were generated in which Cre recombinase was placed under theExpand
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Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene.
Glomerular injury and proteinuria in diabetes (types 1 and 2) and IgA nephropathy is related to the degree of podocyte depletion in humans. For determining the causal relationship between podocyteExpand
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