Now showing items 1-9 of 9

    • Application of the RIMARC algorithm to a large data set of action potentials and clinical parameters for risk prediction of atrial fibrillation 

      Ravens, U.; Katircioglu-Öztürk, D.; Wettwer, E.; Christ, T.; Dobrev, D.; Voigt, N.; Poulet, C.; Loose, S.; Simon, J.; Stein, A.; Matschke, K.; Knaut, M.; Oto, E.; Oto, A.; Güvenir, H. A. (Springer, 2015)
      Ex vivo recorded action potentials (APs) in human right atrial tissue from patients in sinus rhythm (SR) or atrial fibrillation (AF) display a characteristic spike-and-dome or triangular shape, respectively, but variability ...
    • Circulating LL37 targets plasma extracellular vesicles to immune cells and intensifies Behçet's disease severity 

      Kahraman, T.; Gucluler, G.; Simsek, I.; Yagci, F. C.; Yildirim, M.; Ozen, C.; Dinc, A.; Gursel, M.; Ikromzoda, L.; Sutlu, T.; Gay, S.; Gursel, I. (Taylor and Francis, 2017-02)
      Behçet's disease (BD) activity is characterised by sustained, over-exuberant immune activation, yet the underlying mechanisms leading to active BD state are poorly defined. Herein, we show that the human cathelicidin derived ...
    • Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 

      Ricciardone, M. D.; Özçelik, T.; Cevher, B.; Özdaǧ, H.; Tuncer, M.; Gürgey, A.; Uzunalimoǧlu, O.; Çetinkaya, H.; Tanyeli, A.; Erken, E.; Öztürk, M. (American Association for Cancer Research, 1999)
      Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. ...
    • An integrated map of structural variation in 2,504 human genomes 

      Sudmant, P. H.; Rausch, T.; Gardner, E. J.; Handsaker, R. E.; Abyzov, A.; Huddleston, J.; Zhang, Y.; Ye, K.; Jun, G.; Fritz, M. Hsi-Yang; Konkel, M. K.; Malhotra, A.; Stütz, A. M.; Shi, X.; Casale, F. P.; Chen, J.; Hormozdiari, F.; Dayama, G.; Chen, K.; Malig, M.; Chaisson, M. J. P.; Walter, K.; Meiers, S.; Kashin, S.; Garrison, E.; Auton, A.; Lam, H. Y. K.; Mu, X. J.; Alkan, C.; Antaki, D.; Bae, T.; Cerveira, E.; Chines, P.; Chong, Z.; Clarke, L.; Dal, E.; Ding, L.; Emery, S.; Fan, X.; Gujral, M.; Kahveci, F.; Kidd, J. M.; Kong, Y.; Lameijer, Eric-Wubbo; McCarthy, S.; Flicek, P.; Gibbs, R. A.; Marth, G.; Mason, C. E.; Menelaou, A.; Muzny, D. M.; Nelson, B. J.; Noor, A.; Parrish, N. F.; Pendleton, M.; Quitadamo, A.; Raeder, B.; Schadt, E. E.; Romanovitch, M.; Schlattl, A.; Sebra, R.; Shabalin, A. A.; Untergasser, A.; Walker J. A.; Wang, M.; Yu, F.; Zhang, C.; Zhang, J.; Zheng-Bradley, X.; Zhou, W.; Zichner, T.; Sebat, J.; Batzer, M. A.; McCarroll, S. A.; Mills, R. E.; Gerstein, M. B.; Bashir, A.; Stegle, O.; Devine, S. E.; Lee, C.; Eichler, E. E.; Korbel, J. O. (Nature Publishing Group, 2015)
      Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced ...
    • Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer 

      Sevinç, A.; Yannoukakos, D.; Konstantopoulou, I.; Manguoglu, E.; Lüleci, G.; Çolak, T.; Akyerli, C.; Çolakoglu, G.; Tez, M.; Sayek, I.; Gerassimos, V.; Nasioulas, G.; Papadopoulou, E.; Florentin, L.; Kontogianni, E.; Bozkurt, B.; Kocabas, N. A.; Karakaya, A. E.; Yulug, I. G.; Özçelik, T. (International Institute of Anticancer Research, 2004)
      Background: The RNASEL G1385A variant was recently found to be implicated in the development of prostate cancer. Considering the function of RNase L and the pleiotropic effects of mutations associated with cancer, we sought ...
    • MDM2 T309G polymorphism is associated with bladder cancer 

      Onat, O. E.; Tez, M.; Özçelik, T.; Törüner, G. A. (International Institute of Anticancer Research, 2006)
      Recently, a functional T to G polymorphism at nucleotide 309 in the promoter region of the MDM2 gene (rs: 2279744, SNP 309) has been identified. This polymorphism has an impact on the expression of the MDM2 gene, which is ...
    • MEFV gene is a probable susceptibility gene for Behçet's disease 

      Imirzalıoglu, N.; Dursun, A.; Tastan, B.; Soysal, Y.; Yakıcıer, M. C. (Taylor & Francis, 2005)
      Objective: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial ...
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy 

      Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T. (Nature Publishing, 2002)
      Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...
    • X chromosome inactivation and female predisposition to autoimmunity 

      Ozcelik, T. (Springer New York, 2008)
      [No abstract available]