Selected Publications

Selected Publications

This page gives an overview of selected publications of affiliated members of GSHS at Koç University. Please note that you may require a subscription to the relevant journal to access to full text of these articles.

Clinical management of the uraemic syndrome in chronic kidney disease.

Vanholder R, Fouque D, Glorieux G, Heine GH, Kanbay M, Mallamaci F, Massy ZA, Ortiz A, Rossignol P, Wiecek A, Zoccali C, London GM; European Renal Association European Dialysis.; Transplant Association (ERA-EDTA) European Renal.; Cardiovascular Medicine (EURECA-m) working group..

Lancet Diabetes Endocrinol. 2016 Apr;4(4):360-73.

An unexpected tetanus case.

Ergonul O, Egeli D, Kahyaoglu B, Bahar M, Etienne M, Bleck T.

Lancet Infect Dis. 2016 Jun;16(6):746-52.

The double challenge of resistant hypertension and chronic kidney disease.

Rossignol P, Massy ZA, Azizi M, Bakris G, Ritz E, Covic A, Goldsmith D, Heine GH, Jager KJ, Kanbay M, Mallamaci F, Ortiz A, Vanholder R, Wiecek A, Zoccali C, London GM, Stengel B, Fouque D; ERA-EDTA EURECA-m working group.; Red de Investigación Renal (REDINREN) network.; Cardiovascular and Renal Clinical Trialists (F-CRIN INI-CRCT) network..

Lancet. 2015 Oct 17;386(10003):1588-98.

Impaired autophagy induces chronic atrophic pancreatitis in mice via sex- and nutrition-dependent processes.

Diakopoulos KN, Lesina M, Wörmann S, Song L, Aichler M, Schild L, Artati A, Römisch-Margl W, Wartmann T, Fischer R, Kabiri Y, Zischka H, Halangk W, Demir IE, Pilsak C, Walch A, Mantzoros CS, Steiner JM, Erkan M, Schmid RM, Witt H, Adamski J, Algül H.

Gastroenterology. 2015 Mar;148(3):626-638.e17.

A subset of metastatic pancreatic ductal adenocarcinomas depends quantitatively on oncogenic Kras/Mek/Erk-induced hyperactive mTOR signalling.

Kong B, Wu W, Cheng T, Schlitter AM, Qian C, Bruns P, Jian Z, Jäger C, Regel I, Raulefs S, Behler N, Irmler M, Beckers J, Friess H, Erkan M, Siveke JT, Tannapfel A, Hahn SA, Theis FJ, Esposito I, Kleeff J, Michalski CW.

Gut. 2016 Apr;65(4):647-57

Microenvironmental hCAP-18/LL-37 promotes pancreatic ductal adenocarcinoma by activating its cancer stem cell compartment.

Sainz B Jr, Alcala S, Garcia E, Sanchez-Ripoll Y, Azevedo MM, Cioffi M, Tatari M, Miranda-Lorenzo I, Hidalgo M, Gomez-Lopez G, Cañamero M, Erkan M, Kleeff J, García-Silva S, Sancho P, Hermann PC, Heeschen C.

Gut. 2015 Dec;64(12):1921-35.

Distinct and combinatorial functions of Jmjd2b/Kdm4b and Jmjd2c/Kdm4c in mouse embryonic stem cell identity.

Das PP, Shao Z, Beyaz S, Apostolou E, Pinello L, De Los Angeles A, O’Brien K, Atsma JM, Fujiwara Y, Nguyen M, Ljuboja D, Guo G, Woo A, Yuan GC, Onder T, Daley G, Hochedlinger K, Kim J, Orkin SH.

Mol Cell. 2014 Jan 9;53(1):32-48.

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker P, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B.

 

Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K., Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074.

Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells

Can Küçük, Bei Jiang, Xiaozhou Hu, Wenyan Zhang, John K. C. Chan, Wenming Xiao, Nathan Lack, Can Alkan, John C. Williams, Kendra N. Avery, Pınar Kavak, Anna Scuto, Emel Sen, Philippe Gaulard, Lou Staudt, Javeed Iqbal, Weiwei Zhang, Adam Cornish, Qiang Gong, Qunpei Yang, Hong Sun, Francesco d’Amore, Sirpa Leppä, Weiping Liu, Kai Fu, Laurence de Leval Timothy McKeithan& Wing C. Chan

Nature Communications 6, January 2015 Article number: 6025 (2015)

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA.

Am J Hum Genet. 2016 Aug 4;99(2):299-317.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics., Lupski JR, Brunner HG, van Bon BW, Carvalho CM.

Am J Hum Genet. 2015 Apr 2;96(4):612-22.

Effects of Serum Uric Acid on Estimated GFR in Cardiac Surgery Patients: A Pilot Study.

Ejaz AA, Alquadan KF, Dass B, Shimada M, Kanbay M, Johnson RJ.

Am J Nephrol. 2015;42(6):402-9.

Emerging Escherichia coli O25b/ST131 clone predicts treatment failure in urinary tract infections.

Can F, Azap OK, Seref C, Ispir P, Arslan H, Ergonul O.

Clin Infect Dis. 2015 Feb 15;60(4):523-7

Inhibition of CD47 Effectively Targets Pancreatic Cancer Stem Cells via Dual Mechanisms.

Cioffi M, Trabulo S, Hidalgo M, Costello E, Greenhalf W, Erkan M, Kleeff J, Sainz B Jr, Heeschen C.

Clin Cancer Res. 2015 May 15;21(10):2325-37.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM.

Neurology. 2016 Jul 5;87(1):77-85.

Crimean-Congo hemorrhagic fever among health care workers, Turkey.

Celikbas AK, Dokuzoğuz B, Baykam N, Gok SE, Eroğlu MN, Midilli K, Zeller H, Ergonul O.

Emerg Infect Dis. 2014 Mar;20(3):477-9.

DICER governs characteristics of glioma stem cells and the resulting tumors in xenograft mouse models of glioblastoma.

Mansouri S, Singh S, Alamsahebpour A, Burrell K, Li M, Karabork M, Ekinci C, Koch E, Solaroglu I, Chang JT, Wouters B, Aldape K, Zadeh G.

Oncotarget. 2016 Aug 30;7(35):56431-56446.

Hypoxia-induced endoplasmic reticulum stress characterizes a necrotic phenotype of pancreatic cancer.

Kong B, Cheng T, Wu W, Regel I, Raulefs S, Friess H, Erkan M, Esposito I, Kleeff J, Michalski CW.

Oncotarget. 2015 Oct 13;6(31):32154-60.

βIII-tubulin: a novel mediator of chemoresistance and metastases in pancreatic cancer.

McCarroll JA, Sharbeen G, Liu J, Youkhana J, Goldstein D, McCarthy N, Limbri LF, Dischl D, Ceyhan GO, Erkan M, Johns AL, Biankin AV, Kavallaris M, Phillips PA.

Oncotarget. 2015 Feb 10;6(4):2235-49.

Hypertension in Chronic Kidney Disease Part 2: Role of Ambulatory and Home Blood Pressure Monitoring for Assessing Alterations in Blood Pressure Variability and Blood Pressure Profiles.

Parati G, Ochoa JE, Bilo G, Agarwal R, Covic A, Dekker FW, Fliser D, Heine GH, Jager KJ, Gargani L, Kanbay M, Mallamaci F, Massy Z, Ortiz A, Picano E, Rossignol P, Sarafidis P, Sicari R, Vanholder R, Wiecek A, London G, Zoccali C; European Renal and Cardiovascular Medicine (EURECA-m) working group of the European Renal Association-European Dialysis Transplantation Association (ERA-EDTA)..

Hypertension. 2016 Jun;67(6):1102-10.

Hypertension in Chronic Kidney Disease Part 1: Out-of-Office Blood Pressure Monitoring: Methods, Thresholds, and Patterns.

Parati G, Ochoa JE, Bilo G, Agarwal R, Covic A, Dekker FW, Fliser D, Heine GH, Jager KJ, Gargani L, Kanbay M, Mallamaci F, Massy Z, Ortiz A, Picano E, Rossignol P, Sarafidis P, Sicari R, Vanholder R, Wiecek A, London G, Zoccali C; European Renal and Cardiovascular Medicine (EURECA-m) working group of the European Renal Association–European Dialysis Transplantation Association (ERA-EDTA)..

Hypertension. 2016 Jun;67(6):1093-101.

Validity of Vascular Calcification as a Screening Tool and as a Surrogate End Point in Clinical Research.

Zoccali C, Bolignano D, D’Arrigo G, Dekker FW, Fliser D, Heine GH, Jager KJ, Kanbay M, Mallamaci F, Massy Z, Ortiz A, Parati G, Rossignol P, Tripepi G, Vanholder R, Wiecek A, London G; European Renal and Cardiovascular Medicine (EURECA-m) Working Group of the European Renal Association–European Dialysis Transplantation Association (ERA-EDTA)..

Hypertension. 2015 Jul;66(1):3-9

Low indoleamine 2,3-dioxygenase activity in persistent food allergy in children.

Buyuktiryaki B, Sahiner UM, Girgin G, Birben E, Soyer OU, Cavkaytar O, Cetin C, Arik Yilmaz E, Yavuz ST, Kalayci O, Baydar T, Sackesen C.

Allergy. 2016 Feb;71(2):258-66.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygili F, Comlekci A, Garg A.

J Clin Endocrinol Metab. 2016 Jul;101(7):2759-67.

Serum sclerostin and adverse outcomes in nondialyzed chronic kidney disease patients.

Kanbay M, Siriopol D, Saglam M, Kurt YG, Gok M, Cetinkaya H, Karaman M, Unal HU, Oguz Y, Sari S, Eyileten T, Goldsmith D, Vural A, Veisa G, Covic A, Yilmaz MI.

J Clin Endocrinol Metab. 2014 Oct;99(10):E1854-61.

Epigenetic modifications of androgen receptor signaling in castration resistant prostate cancer (CRPC)

Saraç, O.D. Toparlak, A. Kaplan, A. Ebrahimi, T. Bagci-Önder, T. Onder, N.A. Lack

European Journal of Cancer, 2014 July;50(5):S99H.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D’Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.

J Med Genet. 2016 Sep;53(9):608-15

Cor a 14, Hazelnut-Specific IgE, and SPT as a Reliable Tool in Hazelnut Allergy Diagnosis in Eastern Mediterranean Children.

Buyuktiryaki B, Cavkaytar O, Sahiner UM, Yilmaz EA, Yavuz ST, Soyer O, Sekerel BE, Tuncer A, Sackesen C.

J Allergy Clin Immunol Pract. 2016 Mar-Apr;4(2):265-72.e3

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Jun;36(6):593-8.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.

Nat Genet. 2017 Jan 9.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.

J Clin Invest. 2015 Sep;125(9):3585-99.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O’Connor BC, Keegan CE, Yin LJ, Lai AH, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Esch HV, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: e87623