| 1 | NPHS3, PLCE1, SRN3
|
| Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
|
| Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.
|
| Clin J Am Soc Nephrol. Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10 2018
|
| 2 | NPHS3, PLCE1, SRN3
|
| Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
|
| Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.
|
| J Med Genet 47(7):445-52.PMID: 20591883 2010
|
| 3 | PLCE1, SRN3
|
| Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
|
| Gilbert RD, Turner CL, Gibson J, Bass PS, Haq MR, Cross E, Bunyan DJ, Collins AR, Tapper WJ, Needell JC, Dell B, Morton NE, Temple IK, Robinson DO.
|
| Kidney Int 75(4):415-9. Epub 2008 Nov 26.PMID: 19037252 2009
|
| 4 | CD2AP, FSGS2, FSGS3, NPHS3, PLCE1, SRN3, TRPC6
|
| Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
|
| Machuca E, Benoit G, Antignac C.
|
| Hum Mol Genet 18(R2):R185-94. Review.PMID: 19808795 2009
|
| 5 | SRN3, PLCE1
|
| Familial nephrotic syndrome: PLCE1 enters the fray.
|
| Jefferson JA, Shankland SJ.
|
| Nephrol Dial Transplant 22(7):1849-52. Epub 2007 Apr 20. Review. No abstract available. 2007
|
| 6 | SRN3, PLCE1
|
| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
|
| Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F.
|
| Nat Genet 38(12):1397-405. Epub 2006 Nov 5. 2006
|