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1)Saleem MA. New developments in steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2012; (Epub)
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2)Jones N, Blasutig IM, Eremina V, et al. Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature. 2006; 440: 818-23
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3)Kestila M, Lenkkeri U, Mannikko M, et al. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell. 1998; 1: 575-82
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4)Bolk S, Puffenberger EG, Hudson J, et al. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet. 1999; 65: 1785-90
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5)Aya K, Tanaka H, Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 2000; 57: 401-4
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6)Sako M, Nakanishi K, Obana M, et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int. 2005; 67: 1248-55
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7)Aya K, Shimizu J, Ohtomo Y, et al. NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. Nephrol Dial Transplant. 2009; 24: 2411-4
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8)Liu L, Done SC, Khoshnoodi J, et al. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet. 2001; 10: 2637-44
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9)Philippe A, Nevo F, Esquivel EL, et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008; 19(10): 1871-8
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10)Santin S, Garcia-Maset R, Ruiz P, et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 2009; 76: 1268-76
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11)Machuca E, Benoit G, Nevo F, et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010; 21: 1209-17
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12)Kuusniemi AM, Qvist E, Sun Y, et al. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation. 2007; 83: 1316-23
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13)Salant DJ, Topham PS. Role of nephrin in proteinuric renal diseases. Springer Semin Immunopathol. 2003; 24: 423-39
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14)Liu L, Aya K, Tanaka H, et al. Nephrin is an important component of the barrier system in the testis. Acta Med Okayama. 2001; 55: 161-5
医学中央雑誌刊行会  PubMed
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15)Kuusniemi AM, Kestila M, Patrakka J, et al. Tissue expression of nephrin in human and pig. Pediatr Res. 2004; 55: 774-81
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16)Juhila J, Lassila M, Roozendaal R, et al. Inducible nephrin transgene expression in podocytes rescues nephrin-deficient mice from perinatal death. Am J Pathol. 2010; 176: 51-63
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17)Wagner N, Morrison H, Pagnotta S, et al. The podocyte protein nephrin is required for cardiac vessel formation. Hum Mol Genet. 2011; 20: 2182-94
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18)Weber S, Gribouval O, Esquivel EL, et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 2004; 66: 571-9
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19)Kitamura A, Tsukaguchi H, Maruyama K, et al. Steroid-resistant nephrotic syndrome. Kidney Int. 2008; 74(9): 1209-15
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20)Nishibori Y, Liu L, Hosoyamada M, et al. Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney Int. 2004; 66: 1755-65
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21)Roselli S, Moutkine I, Gribouval O, et al. Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic. 2004; 5: 37-44
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22)Tsukaguchi H, Sudhakar A, Le TC, et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest. 2002; 110: 1659-66
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23)Ratelade J, Lavin TA, Muda AO, et al. Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome. J Am Soc Nephrol. 2008; 19(8): 1491-9
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24)Brown EJ, Schlondorff JS, Becker DJ, et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2011; 42: 72-6
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25)Boyer O, Benoit G, Gribouval O, et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol. 2011; 22: 239-45
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26)Chhabra ES. Higgs HN. INF2 Is a WASP homology 2motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization 2006. J Biol Chem. 2011; 281: 26754-67
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27)Boyer O, Nevo F, Plaisier E, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med. 2011; 365: 2377-88
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28)Freedman BI, Nagaraj SK, Lin JJ, et al. Potential donor-recipient MYH9 genotype interactions in posttransplant nephrotic syndrome after pediatric kidney transplantation. Am J Transplant. 2009; 9: 2435-40
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29)Kao WH, Klag MJ, Meoni LA, et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet. 2008; 40: 1185-92
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30)Kopp JB, Smith MW, Nelson GW, et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008; 40: 1175-84
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31)Johnstone DB, Zhang J, George B, et al. Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Mol Cell Biol. 2011; 31: 2162-70
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32)Genovese G, Tonna SJ, Knob AU, et al. A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int. 2010; 78: 698-704
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33)Genovese G, Friedman DJ, Ross MD, et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010; 329: 841-5
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34)Sekine T, Konno M, Sasaki S, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010; 78: 207-14
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35)Krendel M, Kim SV, Willinger T, et al. Disruption of Myosin 1e promotes podocyte injury. J Am Soc Nephrol. 2009; 20: 86-94
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36)Mele C, Iatropoulos P, Donadelli R, et al. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med. 2011; 365: 295-306
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37)Ozaltin F, Ibsirlioglu T, Taskiran EZ, et al. Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet. 2011; 89: 139-47
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38)Wharram BL, Goyal M, Gillespie PJ, et al. Altered podocyte structure in GLEPP1 (Ptpro)-deficient mice associated with hypertension and low glomerular filtration rate. J Clin Invest. 2000; 106: 1281-90
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39)Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol. 2007; 18: 2773-80
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40)Lopez LC, Schuelke M, Quinzii CM, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006; 79: 1125-9
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41)Peng M, Falk MJ, Haase VH, et al. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS Genet. 2008; 4: e1000061
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42)Montini G, Malaventura C, Salviati L. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med. 2008; 358: 2849-50
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43)Heeringa SF, Chernin G, Chaki M, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011; 121: 2013-24
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