Now showing items 1-15 of 15

    • 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. ...
    • The bonobo genome compared with the chimpanzee and human genomes 

      Prüfer, K.; Munch, K.; Hellmann I.; Akagi, K.; Miller J.R.; Walenz, B.; Koren, S.; Sutton G.; Kodira, C.; Winer, R.; Knight J.R.; Mullikin J.C.; Meader, S.J.; Ponting, C.P.; Lunter G.; Higashino, S.; Hobolth, A.; Dutheil J.; Karakoç, E.; Alkan, C.; Sajjadian, S.; Catacchio, C.R.; Ventura, M.; Marques-Bonet, T.; Eichler, E.E.; André, C.; Atencia, R.; Mugisha L.; Junhold J.; Patterson, N.; Siebauer, M.; Good J.M.; Fischer, A.; Ptak, S.E.; Lachmann, M.; Symer, D.E.; Mailund, T.; Schierup, M.H.; Andrés, A.M.; Kelso J.; Pääbo, S. (2012)
      Two African apes are the closest living relatives of humans: the chimpanzee (Pan troglodytes) and the bonobo (Pan paniscus). Although they are similar in many respects, bonobos and chimpanzees differ strikingly in key ...
    • Cornea engineering on polyester carriers 

      Zorlutuna, P.; Tezcaner, A.; Kiyat, I.; Aydinli, A.; Hasirci, V. (John Wiley & Sons, Inc., 2006)
      In this study, biodegradable polyester based carriers were designed for tissue engineering of the epithelial and the stromal layers of the cornea, and the final construct was tested in vitro. In the construction of the ...
    • 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. ...
    • 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 ...
    • Jnk1 deficiency in hematopoietic cells suppresses macrophage apoptosis and increases atherosclerosis in low-density lipoprotein receptor null mice 

      Babaev, V. R.; Yeung, M.; Erbay, E.; Ding, L.; Zhang, Y.; May, J. M.; Fazio, S.; Hotamisligil, G. S.; Linton, M. F. (Lippincott Williams and Wilkins, 2016)
      Objective - The c-Jun NH 2 -terminal kinases (JNK) are regulated by a wide variety of cellular stresses and have been implicated in apoptotic signaling. Macrophages express 2 JNK isoforms, JNK1 and JNK2, which may have ...
    • 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 ...
    • p53 mutation with frequent novel codons but not a mutator phenotype in BRCA1-and BRCA2-associated breast tumours 

      Crook, T.; Brooks, L. A.; Crossland, S.; Osin, P.; Barker, K. T.; Waller, J.; Philp, E.; Smith, P. D.; Yulug, I.; Peto, J.; Parker, G.; Allday, M. J.; Crompton, M. R.; Gusterson, B. A. (Nature Publishing Group, 1998)
      The status of p53 was investigated in breast tumours arising in germ-line carriers of mutant alleles of BRCA1 and BRCA2 and in a control series of sporadic breast tumours. p53 expression was detected in 20/26 (77%) BRCA1-, ...
    • Phenotype-based variation as a biomarker of sensitivity to molecularly targeted therapy in melanoma 

      Senses, K. M.; Ghasemi M.; Akbar, M. W.; Isbilen, M.; Fallacara, A. L.; Frankenburg, S.; Schenone, S.; Lotem, M.; Botta, M.; Gure, A. O. (Royal Society of Chemistry, 2017)
      Transcriptomic phenotypes defined for melanoma have been reported to correlate with sensitivity to various drugs. In this study, we aimed to define a minimal signature that could be used to distinguish melanoma sub-types ...
    • Recessive LAMC3 mutations cause malformations of occipital cortical development 

      Barak, T.; Kwan, K. Y.; Louvi, A.; Demirbilek, V.; Saygi, S.; Tüysüz, B.; Choi, M.; Boyaci, H.; Doerschner, K.; Zhu, Y.; Kaymakçalan, H.; Yilmaz, S.; Bakircioglu, M.; Çağlayan, A. O.; Öztürk, A.K.; Yasuno, K.; Brunken W. J.; Atalar, E.; Yalçnkaya, C.; Dinçer, A.; Bronen, R. A.; Mane, S.; Özçelik, T.; Lifton, R. P.; Šestan, N.; Bilgüvar, K.; Günel, M. (Nature Publishing Group, 2011-05-15)
      The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral ...
    • 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 ...
    • 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 ...
    • Systematic discovery of Rab GTPases with synaptic functions in Drosophila 

      Chan, C.-C.; Scoggin, S.; Wang, D.; Cherry, S.; Dembo, T.; Greenberg, B.; Jin, E.J.; Kuey, C.; Lopez, A.; Mehta, S.Q.; Perkins, T.J.; Brankatschk, M.; Rothenfluh, A.; Buszczak, M.; Hiesinger P.R. (2011)
      Background: Neurons require highly specialized intracellular membrane trafficking, especially at synapses. Rab GTPases are considered master regulators of membrane trafficking in all cells, and only very few Rabs have known ...
    • TP53 mutations in familial breast cancer: Functional aspects 

      Gasco, M.; Yulug, I. G.; Crook, T. (John Wiley & Sons, Inc., 2003)
      Mutation in p53 (TP53) remains one of the most commonly described genetic events in human neoplasia. The occurrence of mutations is somewhat less common in sporadic breast carcinomas than in other cancers, with an overall ...