| 1 | NPHS2, SRN1
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| Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.
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| de Almeida R, da Silva WC, Garbin HI, Itaquy TP, Dos Santos Pereira F, Garcia CD, Keitel E, Sales Luiz Vianna F, Veronese FV.
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| Clin Nephrol Oct;94(4):187-196. doi: 10.5414/CN110178 2020
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| 2 | NPHS2
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| C-terminal oligomerization of podocin mediates interallelic interactions. Biochim . 2018 PMID:
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| Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K.
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| Biochim Biophys Acta Mol Basis Dis. Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13. 2018
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| 3 | NPHS2, SRN1
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| Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children. Gene. 2017
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| Joshi BB, Mistry KN, Gang S, Koringa PG, Joshi CG.
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| Gene Sep 10;628:134-140. doi: 10.1016/j.gene.2017.07.029. Epub 2017 Jul 13 2017
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| 4 | NPHS2, SRN1
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| NPHS2 mutations account for only 15% of nephrotic syndrome cases.
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| Guaragna MS, Lutaif AC, Piveta CS, Souza ML, de Souza SR, Henriques TB, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP.
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| BMC Med Genet. Sep 29;16:88. doi: 10.1186/s12881-015-0231-9 2015
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| 5 | NPHS2, SRN1
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| NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
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| Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Moriničre V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C.
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| Hum Mutat. Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. 2014
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| 6 | NPHS2, SRN1
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| NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
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| Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K.
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| Pediatr Nephrol. May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14. 2013
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| 7 | NPHS1, NPHS2, SRN1
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| A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
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| Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ.
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| Gene Jul 10;502(2):133-7. doi: 10.1016/j.gene.2012.04.063. Epub 2012 Apr 28. 2012
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| 8 | NPHS1, NPHS2, SRN1
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| Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
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| Caridi G, Gigante M, Ravani P, Trivelli A, Barbano G, Scolari F, Dagnino M, Murer L, Murtas C, Edefonti A, Allegri L, Amore A, Coppo R, Emma F, De Palo T, Penza R, Gesualdo L, Ghiggeri GM.
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| Clin J Am Soc Nephrol 4(6):1065-72. Epub 2009 Apr 30.
2009
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| 9 | NPHS1, NPHS2
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| Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.
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| Shono A, Tsukaguchi H, Kitamura A, Hiramoto R, Qin XS, Doi T, Iijima K.
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| Hum Mol Genet 18(16):2943-56. Epub 2009 May 14.PMID: 19443487 2009
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| 10 | LMX1B, NPHS2
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| The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.
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| Harendza S, Stahl RA, Schneider A.
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| Cell Mol Biol Lett 14(4):679-91. Epub 2009 Jun 27.PMID: 19562271 2009
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| 11 | NPHS2
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| NPHS2 mutations in children with steroid-resistant nephrotic syndrome.
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| Otukesh H, Ghazanfari B, Fereshtehnejad SM, Bakhshayesh M, Hashemi M, Hoseini R, Chalian M, Salami A, Mehdipor L, Rahiminia A.
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| Iran J Kidney Dis 3(2):99-102.PMID: 19395786 2009
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| 12 | NPHS2
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| NPHS2 variation in focal and segmental glomerulosclerosis.
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| Tonna SJ, Needham A, Polu K, Uscinski A, Appel GB, Falk RJ, Katz A, Al-Waheeb S, Kaplan BS, Jerums G, Savige J, Harmon J, Zhang K, Curhan GC, Pollak MR.
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| BMC Nephrol 9:13.PMID: 18823551 2008
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| 13 | NPHS2, SRN1
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| Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
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| Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, Hasselbacher K, Ozaltin F, Hildebrandt F; APN Study Group.
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| J Am Soc Nephrol 19(2):365-71. Epub 2008 Jan 23.PMID: 18216321 2008
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| 14 | NPHS2
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| Lack of association between NPHS2 gene polymorphisms and Henoch-Schönlein purpura nephritis.
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| Zhang Y, Xudong X, Du L, Gu W, Dai Y, Liu A, Xia Y, Mao J.
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| Arch Dermatol Res 299(3):151-5. Epub 2007 Mar 29.
2007
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| 15 | NPHS2
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| NPHS2 variation in sporadic focal segmental glomerulosclerosis.
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| McKenzie LM, Hendrickson SL, Briggs WA, Dart RA, Korbet SM, Mokrzycki MH, Kimmel PL, Ahuja TS, Berns JS, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Cho M, Zhou YC, Binns-Roemer E, Kirk GD, Kopp JB, Winkler CA.
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| J Am Soc Nephrol 18(11):2987-95. Epub 2007 Oct 17.PMID: 17942957 2007
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| 16 | NPHS2, STOM, STOML1, PHB
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| The significance of prohibitin and c-Met/hepatocyte growth factor receptor in the progression of cervical adenocarcinoma.
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| Tsai HW, Chow NH, Lin CP, Chan SH, Chou CY, Ho CL.
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| Hum Pathol 37(2):198-204. Epub 2005 Dec 20. 2006
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| 17 | ACTN4, CD2AP, NPHS1, NPHS2, SRN1, SRN4, WT1
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| Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
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| Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group.
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| Pediatr Res 59(2):325-31. 2006
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| 18 | ACTN4, NPHS1, NPHS2, CD2AP
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| The relationship among nephrin, podocin, CD2AP, and alpha-actinin might not be a true 'interaction' in podocyte.
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| Fan Q, Xing Y, Ding J, Guan N, Zhang J.
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| Kidney Int 69(7):1207-15. 2006
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| 19 | NPHS2
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| Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
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| Dusel JA, Burdon KP, Hicks PJ, Hawkins GA, Bowden DW, Freedman BI.
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| Kidney Int 68(1):256-62. 2005
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| 20 | NPHS1, NPHS2
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| Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
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| Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P.
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| Hum Mol Genet 11(4):379-88. 2002
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| 21 | NPHS2, PKD2L1, SRN1
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| Tissue and cellular localization of a novel polycystic kidney disease-like gene product, polycystin-L.
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| Basora N, Nomura H, Berger UV, Stayner C, Guo L, Shen X, Zhou J.
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| J Am Soc Nephrol 13(2):293-301. 2002
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| 22 | LMX1B, NPS1, NPHS2
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| The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
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| Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R.
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| J Clin Invest 109(8):1073-82. 2002
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| 23 | NPHS2
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| NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
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| Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.
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| Nat Genet 24(4):349-54. 2000
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| 24 | ACTN4, FSGS1, NPHS2, SRN1
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| A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31.
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| Tsukaguchi H, Yager H, Dawborn J, Jost L, Cohlmia J, Abreu PF, Pereira AB, Pollak MR.
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| J Am Soc Nephrol 11(9):1674-80. 2000
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