This is the first Nephrogenetics Laboratory of Turkey specifically dedicated only to genetics of hereditary kidney diseases.
• Conventional Thermal Cycler (3 units)
• Real-Time PCR (1 piece)
• Sequence apparatus (Applied 3130)
• Second generation sequencing device (S5 and Ion Chef system)
• Normal and refrigerated centrifuge (2 pieces)
• DNA concentrator, freezer (-80 and -20)
• Liquid nitrogen tank (-180)
• Class II biological safety cabinet
• Inverted microscope
• Refrigerators (2 pieces)
• Gel electrophoresis systems (conventional and automatic)
• DNA / RNA isolation robot
• Prof. Dr. Fatih Özaltın
• Biologist Dr. Emine Atayar
• Biologist Doruk Taylan
• Technician Serpil Solmaz
• Technician Mustafa Baran
• Investigation of Treatment Effectiveness of Coenzyme Q10 Nanotherapeutics in CoQ10 Nephropathy and Comparison of Mitochondrial Functions in In Vitro Model (HU Comprehensive Research Project-TSA-2018-16993)
• Detection of mutations in complement regulatory genes in adolescent-onset atypical hemolytic uremic syndrome patients and examination of the clinical characteristics of the patients (H.Ü. Comprehensive Research Project-TSA-2019-18022)
• Investigation of New Biomarkers That Can Be Used in the Diagnosis and Monitoring of Cystinosis, a Rare Disease: Clinical and In Vitro Based Multiomic (Genomic, Proteomics, Metabolomic and Fluxomic) Studies (TÜBİTAK 1001 project-118S578)
• Investigation of Genetic and Clinical Features of Childhood Autosomal Dominant and Autosomal Recessive Polycystic Kidney Diseases (Hacettepe University Medical Specialty Thesis Project- TTU-2019-17817)
EURenOmics (European Consortium for High-Throughput Research in Rare Kidney Diseases) (EU 7th Framework project (Project No: 305608)
• Detection of Mutations in Complement Regulatory Genes in Patients with Atypical Hemolytic Uremic Syndrome (HU Research Project-010 A 101 009-104)
• Identification of new genes in pediatric kidney diseases (Istanbul University Cerrahpaşa BAP Project, Project No: 55436)
Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S, Webb H, Heselden M, Lipska-Zie Tkiewicz BS, Ozaltin F, Levtchenko E, Vivarelli M. Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group. Nat Rev Nephrol. 2021 Apr; 17 (4): 277-289. doi: 10.1038 / s41581-020-00384-1.
• Demir S, Gülhan B, Özen S, Çeleğen K, Batu ED, Taş N, Orhan D, Bilginer Y, Düzova A, Ozaltin F, Topaloğlu R. Long term renal survival of pediatric patients with lupus nephritis.Nephrol Dial Transplant. 2021 Apr 7: gfab152. doi: 10.1093 / ndt / gfab152.
• Demirgan EB, Saygili S, Canpolat N, Sever L, Kilicaslan I, Taylan D, Caliskan S, Ozaltin F. AGTR1-related renal tubular dysgeneses may not be fatal. Kidney Int Rep. 2020 Dec 13; 6 (3): 846-852. doi: 10.1016 / j.ekir.2020.11.033.
• Özçakar ZB, Ozaltin F, Gülhan B et al. Transplantation in pediatric aHUS within the era of eculizumab therapy. Pediatric Transplant. 2021 May; 25 (3): e13914. doi: 10.1111 / petr.13914.
• Topaloglu R, Keser AG, Gülhan B, Ozaltin F, Demir H, Çiftci T, Demir N, Temucin ÇM, Yuce A, Akhan O. Cystinosis beyond kidneys: gastrointestinal system and muscle involvement. BMC Gastroenterol. 2020 Jul 29; 20 (1): 242. doi: 10.1186 / s12876-020-01385-x
• Saygili S, Atayar E, Canpolat N, Elicevik M, Kurugoglu S, Sever L, Caliskan S, Ozaltin F. A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract. Clin Genet. 2020 Oct; 98 (4): 390-395. doi: 10.1111 / cge.13813.
Ozdemir G, Gulhan B, Atayar E, Saygılı S, Soylemezoglu O, Ozcakar ZB, Eroglu FK, Candan C, Demir BK, Soylu A, Yüksel S, Alpay H, Agbas A, Duzova A, Hayran M, Ozaltin F, Topaloglu R. COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome. Pediatr Nephrol. 2020 Oct; 35 (10): 1941-1952. doi: 10.1007 / s00467-020-04574-8.
• Atmaca M, Gülhan B, Atayar E, Bayazıt AK, Candan C, Arıcı M, Topaloğlu R, Özaltın F. Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation. Turk J Pediatr. 2019; 61 (5): 657-663. doi: 10.24953 / turkjped.2019.05.003
• Güngör T, Eroğlu FK, Kargın Çakıcı E, Yazılıtaş F, Can G, Çelikkaya E, Karakaya D, Kurt Şükür ED, Özaltın F, Yağız B, Bülbül M. Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence? Acta Clin Belg. 2019 Oct 5: 1-3. doi: 10.1080 / 17843286.2019.1675333
• Eroglu FK, Ozaltin F, Gönç N, Nalçacıoğlu H, Özçakar ZB, Yalnızoğlu D, Güçer Ş, Orhan D, Eminoğlu FT, Göçmen R, Alikaşifoğlu A, Topaloğlu R, Düzova A. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation. Pediatr Neurol. 2018 Nov; 88: 71-74. doi: 10.1016 / j.pediatrneurol.2018.07.008
• Akyol A, Güner G, Özşeker HS, Işık A, Atcı Ö, Uzun S, Atayar E, Ozaltin F, Gedikoğlu G, Sökmensüer C, Fearon ER. An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues. Lab Invest. 2019 Jan; 99 (1): 128-137. doi: 10.1038 / s41374-018-0121-9.
• Sürmeli-Döven S, Delibaş A, Gürses İ, Kayacan UR, Coşkun-Yılmaz B, Esen K, Korkmaz E, Özaltın F. Hemolytic uremic syndrome and IgA nephropathy in a child: Coincidence or not? Turk J Pediatr. 2018; 60 (1): 81-85. doi: 10.24953 / turkjped.2018.01.012
• Saygili S, Canpolat N, Sever L, Caliskan S, Atayar E, Ozaltin F. Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Answers. Pediatr Nephrol. 2019 Jan; 34 (1): 77-79. doi: 10.1007 / s00467-018-3982-7.
• Saygili S, Canpolat N, Sever L, Caliskan S, Atayar E, Ozaltin F. Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Questions. Pediatr Nephrol. 2019 Jan; 34 (1): 75-76. doi: 10.1007 / s00467-018-3980-9.
• Fidan K, Göknar N, Gülhan B, Melek E, Yıldırım ZY, Baskın E, Hayran M, Gülleroglu K, Özçakar ZB, Ozaltin F, Soylemezoglu O. Extra-Renal manifestations of atypical hemolytic uremic syndrome in children. Pediatr Nephrol. 2018 Aug; 33 (8): 1395-1403. doi: 10.1007 / s00467-018-3933-3
• Çakar N, Ozcakar ZB, Ozaltin F, Koyun M, Celikel Acar B, Bahat E, Gulhan B, Korkmaz E, Yurt A, Yılmaz S, Soylemezoglu O, Yalcinkaya F. Atypical Hemolytic Uremicndrome in Children Aged <2 Years. Nephron. 2018; 139 (3): 211-218. doi: 10.1159 / 000487609. Epub 2018 Mar 13.
Warejko JK, Tan W, Daga A, Schapiro D, ……., Ozaltin F, …… Lifton RP, Braun DA, Hildebrandt F. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 Jan 6; 13 (1): 53-62. doi: 10.2215 / CJN.04120417
• Braun DA, Rao J, Mollet G, Schapiro D, ……. Ozaltin F, ………., Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49 (10): 1529-1538. doi: 10.1038 / ng.3933
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. PLoS One. 2017 Aug 10; 12 (8): e0180926. doi: 10.1371 / journal.pone.0180926
• Topaloglu R, Gulhan B, İnözü M, Canpolat N, Yilmaz A, Noyan A, Dursun I, Gökçe İ, Gürgöze MK, Akinci N, Baskin E, Serdaroğlu E, Demircioğlu Kiliç B, Yüksel S, Övünç Hacihamdioğlu D, Korkmaz E , Hayran M, Ozaltin F; contributors of The Turkish Cystinosis Study Group. The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis. Clin J Am Soc Nephrol. 2017 Aug 9; 12 (10): 1634-41. doi: 10.2215 / CJN.00180117
Trautmann A, Schnaidt S, Lipska-Ziętkiewicz BS, Bodria M, Ozaltin F, Emma F, Anarat A, Melk A, Azocar M, Oh J, Saeed B, Gheisari A, Caliskan S, Gellermann J, Higuita LMS, Jankauskiene A , Drozdz D, Mir S, Balat A, Szczepanska M, Paripovic D, Zurowska A, Bogdanovic R, Yilmaz A, Ranchin B, Baskin E, Erdogan O, Remuzzi G, Firszt-Adamczyk A, Kuzma-Mroczkowska E, Litwin M, Murer L, Tkaczyk M, Jardim H, Wasilewska A, Printza N, Fidan K, Simkova E, Borzecka H, Staude H, Hees K, Schaefer F; PodoNet Consortium. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children. J Am Soc Nephrol. 2017 Oct; 28 (10): 3055-3065. doi: 10.1681 / ASN.2016101121
• Kayki G, Bozkaya D, Ozaltin F, Orhan D, Kaymaz F, Korkmaz E, Yigit S. Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4. Fetal Pediatr Pathol. 2017 Aug; 36 (4): 332-339. doi: 10.1080 / 15513815.2017.1324545
• Atmaca M, Gulhan B, Korkmaz E, Inozu M, Soylemezoglu O, Candan C, Bayazıt AK, Elmacı AM, Fingerless G, Duzova A, Besbas N, Topaloglu R, Ozaltin F. Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment. Pediatr Nephrol. 2017 Aug; 32 (8): 1369-1375. doi: 10.1007 / s00467-017-3634-3
• Besbas N, Gulhan B, Soylemezoglu O, Ozcakar ZB, Korkmaz E, Hayran M, Ozaltin F. Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. BMC Nephrol. 2017 Jan 5; 18 (1): 6. doi: 10.1186 / s12882-016-0420-6.
• Hölttä T, Bonthuis M, Van Stralen KJ, Bjerre A, Topaloglu R, Ozaltin F, Holmberg C, Harambat J, Jager KJ, Schaefer F, Groothoff JW. Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN / ERA-EDTA Registry. Pediatr Nephrol. 2016 Dec; 31 (12): 2317-2325. doi: 10.1007 / s00467-016-3517-z
• Yüksel S, Evrengül H, Özçakar ZB, Becerir T, Yalçın N, Korkmaz E, Ozaltin F. First-Line, Early and Long-Term Eculizumab Therapy in Atypical Hemolytic Uremic Syndrome: A Case Series in Pediatric Patients. Paediatr Drugs. 2016 Dec; 18 (6): 413-420. doi: 10.1007 / s40272-016-0194-0
Zhu J, Chaki M, Lu D, Ren C, Wang SS, Rauhauser A, Li B, Zimmerman S, Jun B, Du Y, Vadnagara K, Wang H, Elhadi S, Quigg RJ, Topham MK, Mohan C, Ozaltin F, Zhou XJ, Marciano DK, Bazan NG, Attanasio M. Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production. Am J Physiol Renal Physiol. 2016 May 1; 310 (9): F895-908. doi: 10.1152 / ajprenal.00431.2015
Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet. 2016 Apr; 48 (4): 457-65. doi: 10.1038 / ng.3512.
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2016 Feb; 89 (2): 468-475. doi: 10.1038 / ki.2015.317
• Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. J Am Soc Nephrol. 2016 Jan; 27 (1): 63-8. doi: 10.1681 / ASN.2014121240.
• Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F. Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatr Nephrol. 2015 Aug; 30 (8): 1279-87. doi: 10.1007 / s00467-015-3058-x
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. Clin J Am Soc Nephrol. 2015 Apr 7; 10 (4): 592-600. doi: 10.2215 / CJN.06260614
Official Web Page
nephrogenetics.hacettepe.edu.tr