Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

By Doné S.C.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2637-2644

Oxford University Press

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Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains

By Shono Akemi   Tsukaguchi Hiroyasu   Kitamura Akiko   Hiramoto Ryugo   Qin Xiao-Song   Doi Toshio   Iijima Kazumoto  

Human Molecular Genetics, Vol. 18, Iss. 16, 2009-08 ,pp. : 2943-2956

Oxford University Press

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

By Grech V.  

Human Molecular Genetics, Vol. 11, Iss. 4, 2002-02 ,pp. : 379-388

Oxford University Press

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The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

By Putaala H.  

Human Molecular Genetics, Vol. 10, Iss. 1, 2001-01 ,pp. : 1-8

Oxford University Press

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The podocyte protein nephrin is required for cardiac vessel formation

By Wagner Nicole   Morrison Harris   Pagnotta Sophie   Michiels Jean-Francois   Schwab Yannick   Tryggvason Karl   Schedl Andreas   Wagner Kay-Dietrich  

Human Molecular Genetics, Vol. 20, Iss. 11, 2011-06 ,pp. : 2182-2194

Oxford University Press

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