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MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M; PodoNet Consortium. Mele C, et al. Among authors: ibsirlioglu t. N Engl J Med. 2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14. N Engl J Med. 2011. PMID: 21756023 Free PMC article.
Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F, Ibsirlioglu T, Taskiran EZ, Baydar DE, Kaymaz F, Buyukcelik M, Kilic BD, Balat A, Iatropoulos P, Asan E, Akarsu NA, Schaefer F, Yilmaz E, Bakkaloglu A; PodoNet Consortium. Ozaltin F, et al. Among authors: ibsirlioglu t. Am J Hum Genet. 2011 Jul 15;89(1):139-47. doi: 10.1016/j.ajhg.2011.05.026. Epub 2011 Jun 30. Am J Hum Genet. 2011. PMID: 21722858 Free PMC article.
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
Ozaltin F, Li B, Rauhauser A, An SW, Soylemezoglu O, Gonul II, Taskiran EZ, Ibsirlioglu T, Korkmaz E, Bilginer Y, Duzova A, Ozen S, Topaloglu R, Besbas N, Ashraf S, Du Y, Liang C, Chen P, Lu D, Vadnagara K, Arbuckle S, Lewis D, Wakeland B, Quigg RJ, Ransom RF, Wakeland EK, Topham MK, Bazan NG, Mohan C, Hildebrandt F, Bakkaloglu A, Huang CL, Attanasio M. Ozaltin F, et al. Among authors: ibsirlioglu t. J Am Soc Nephrol. 2013 Feb;24(3):377-84. doi: 10.1681/ASN.2012090903. Epub 2012 Dec 28. J Am Soc Nephrol. 2013. PMID: 23274426 Free PMC article.