| 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, 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | SRN1
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| Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.
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| Fuchshuber A, et al.
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| Hum Mol Genet 4 : 2155-2158. 1995
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