Now showing items 1-16 of 16

    • Adjuvant autologous melanoma vaccine for macroscopic stage III disease: survival, biomarkers, and improved response to CTLA-4 blockade 

      Lotem, M.; Merims, S.; Frank, S.; Hamburger, T.; Nissan, A.; Kadouri, L.; Cohen, J.; Straussman, R.; Eisenberg, G.; Frankenburg, S.; Carmon, E.; Alaiyan, B.; Shneibaum, S.; Ayyildiz, Z. O.; Isbilen, M.; Senses, K. M.; Ron, I.; Steinberg, H.; Smith, Y.; Shiloni, E.; Gure, A. O.; Peretz, T. (Hindawi Limited, 2016)
      Background. There is not yet an agreed adjuvant treatment for melanoma patients with American Joint Committee on Cancer stages III B and C. We report administration of an autologous melanoma vaccine to prevent disease ...
    • Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases 

      Chabchoub, G.; Uz, E.; Maalej, A.; Mustafa, C. A.; Rebai, A.; Mnif, M.; Bahloul, Z.; Farid, N. R.; Ozcelik, T.; Ayadi, H. (BioMed Central, 2009)
      Introduction The majority of autoimmune diseases such as rheumatoid arthritis (RA) and autoimmune thyroid diseases (AITDs) are characterized by a striking female predominance superimposed on a predisposing genetic background. ...
    • Coagulation factor V gene mutation increases the risk of venous thrombosis in Behcet's disease 

      Gül, A.; Özbek, U.; Öztürk, C.; Inanç, M.; Koniçe, M.; Özçelik, T. (Oxford University Press, 1996)
      We investigated the prevalence of the coagulation factor V gene G1691A mutation in 64 patients with Behcet's disease (BD) and in 107 apparently healthy individuals. The mutation was present in the heterozygous state in ...
    • Colon cancer associated transcript-1 (CCAT1) expression in adenocarcinoma of the stomach 

      Mizrahi, I.; Mazeh, H.; Grinbaum, R.; Beglaibter, N.; Wilschanski, M.; Pavlov, V.; Adileh, M.; Stojadinovic, A.; Avital, I.; Gure, A. O.; Halle, D.; Nissan, A. (Ivyspring International Publisher, 2015)
      Background: Long non-coding RNAs (lncRNAs) have been shown to have functional roles in cancer biology and are dys-regulated in many tumors. Colon Cancer Associated Transcript -1 (CCAT1) is a lncRNA, previously shown to be ...
    • Data mining experiments on the Angiotensin II-Antagonist in Paroxysmal Atrial Fibrillation (ANTIPAF-AFNET 2) trial: ‘exposing the invisible’ 

      Okutucu, S.; Katircioglu-Öztürk, D.; Oto, E.; Güvenir, H. A.; Karaagaoglu, E.; Oto, A.; Meinertz, T.; Goette, A. (Oxford University Press, 2016)
      Aims: The aims of this study include (i) pursuing data-mining experiments on the Angiotensin II-Antagonist in Paroxysmal Atrial Fibrillation (ANTIPAF-AFNET 2) trial dataset containing atrial fibrillation (AF) burden scores ...
    • Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair 

      Dal, G. M.; Ergüner, B.; Saǧıroǧlu, M. S.; Yüksel, B.; Onat, O. E.; Alkan C.; Özçelik, T. (B M J Group, 2014)
      Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de ...
    • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations 

      Mazoyer, S.; Leary, J.; Kirk, J.; Fleischmann, E.; Wagner, T.; Claes, K.; Messiaen, L.; Foulkes, W.; Desrochers, M.; Simard, J.; Phelan, C. M.; Kwan, E.; Narod, S. A.; Vahteristo, P.; Nevanlinna, H.; Durando, X.; Bignon, Y. J.; Peyrat, J. P.; Bonnardel, C.; Sinilnikova, O. M.; Puget, N.; Lenoir, G. M.; Audoynaud, C.; Goldgar, D.; Maugard, C.; Caux, V.; Gad, S.; Stoppa-Lyonnet, D.; Noguès, C.; Lidereau, R.; Machavoine, C.; Bressac-De Paillerets, B.; Kuschel, B.; Betz, B.; Niederacher, D.; Beckmann, M. W.; Hamann, U.; Ponder, B. A. P.; Robinson, M.; Taylor G. R.; Bishop, T.; Catteau, A.; Solomon, E.; Cohen, B.; Steel, M.; Collins, N.; Stratton, M.; Van Der Looij, M.; Oláh, E.; Miller, N. J.; Barton, D. E.; Sverdlov, R. S.; Friedman, E.; Radice P.; Montagna, M.; Sensi, E.; Caligo, M.; Van Eijk, R.; Devilee, P.; Van Der Luijt, R.; Heimdal, K.; Møller, P.; Borg, Å.; Diez, O.; Cortes, J.; Domenech, M.; Baiget, M.; Osorio, A.; Benítez, J.; Maillet, P.; Sappino, A. P.; Özdag, H.; Özçelik, T.; Ozturk, M.; Rohlfs, E. M.; Boyd, J.; McDermott, D.; Offit, K.; Unger, M.; Nathanson, K.; Weber, B. L.; Sellers, T. A.; Hampton, E.; Couch, F. J.; Neuhausen, S.; Gayther, S. A. (Cell Press, 2000)
      Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our ...
    • High-resolution magic anglespinning ¹H nuclear magnetic resonance spectroscopy metabolomics of hyperfunctioning parathyroid glands 

      Battini, S.; Imperiale, A.; Taïeb, D.; Elbayed, K.; Cicek, A. E.; Sebag, F.; Brunaud, L.; Namer, Izzie-Jacques (Mosby, Inc., 2016)
      Background Primary hyperparathyroidism (PHPT) may be related to a single gland disease or multiglandular disease, which requires specific treatments. At present, an operation is the only curative treatment for PHPT. ...
    • Incorporating family function into chronic pain disability: the role of catastrophizing 

      Akbari, F.; Dehghani, M.; Khatibi, A.; Vervoort, T. (Hindawi Publishing Corporation, 2016)
      Background: Observers' responses to pain are recently investigated to more comprehensively explain chronic pain (CP) and disability. However, the role of family context, defined as interference in roles, communication, and ...
    • Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes 

      Yao, C.; Chen, B. H.; Joehanes, R.; Otlu, B.; Zhang X.; Liu, C.; Huan, T.; Tastan, O.; Cupples, L. A.; Meigs, J. B.; Fox, C. S.; Freedman, J. E.; Courchesne, P.; O'Donnell, C. J.; Munson, P. J.; Keles, S.; Levy, D. (Lippincott Williams & Wilkins, 2015)
      BACKGROUND - : Cardiovascular disease (CVD) reflects a highly coordinated complex of traits. Although genome-wide association studies have reported numerous single nucleotide polymorphisms (SNPs) to be associated with CVD, ...
    • Ischemic stroke phenotype in patients with nonsustained atrial fibrillation 

      Arsava, E. M.; Bas, D. F.; Atalar, E.; Has, A. C.; Oguz, K. K.; Topcuoglu, M. A. (Lippincott Williams and Wilkins, 2015)
      Background and Purpose: The widespread use of ambulatory cardiac monitoring has not only increased the detection of high-risk arrhythmias like persistent and paroxysmal atrial fibrillation (AF), but also made it possible ...
    • 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 ...
    • Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction 

      Bonora, E.; Bianco, F.; Cordeddu, L.; Bamshad, M.; Francescatto, L.; Dowless, D.; Stanghellini, V.; Cogliandro, R. F.; Lindberg, G.; Mungan, Z.; Cefle, K.; Ozcelik, T.; Palanduz, S.; Ozturk, S.; Gedikbasi, A.; Gori, A.; Pippucci, T.; Graziano, C.; Volta, U.; Caio, G.; Barbara, G.; D'Amato, M.; Seri, M.; Katsanis, N.; Romeo, G.; De Giorgio, R. (W.B. Saunders, 2015)
      Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants ...
    • A retrospective comparison of allogeneic peripheral blood stem cell and bone marrow transplantation results from a single center: a focus on the incidence of graft-vs.-host disease and relapse 

      Üstün, C.; Arslan, Ö.; Beksaç, M.; Koç, H.; Gürman, G.; Özçelik, T.; Yilmaz, B.; İlban, O.; Akan, H.; Özcan, M.; Demirer, T.; Uysal, A.; Konuk, N.; Arat, M.; Dilek, İ.; Çelebi, H.; Coskun, H. S. (Elsevier, 1999)
      To detect the effect of the stem cell source, allogeneic peripheral blood stem cell transplantations (alloPBSCTs) performed between 1995 and 1997 from human leukocyte antigen (HLA)-identical siblings in 40 patients with ...
    • Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene 

      Kaplan, Y.; Vargel, I.; Kansu, T.; Akin, B.; Rohmann, E.; Kamaci, S.; Uz, E.; Ozcelik, T.; Wollnik, B.; Akarsu, N. A. (BMJ Group, 2008)
      Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Methods: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions ...