Browsing by Keywords "Mutation"

Now showing items 1-20 of 21

    • Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias 

      Akyerli, C. B.; Özbek, U.; Aydin-Sayitoǧlu, M.; Sirma, S.; Özçelik, T. (Springer, 2003)
      [No abstract available]

    • 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 ...

    • CoVrimer: a tool for aligning SARS-CoV-2 primer sequences and selection of conserved/degenerate primers 

      Vural-Özdeniz, Merve; Aktürk, Aslınur; Demirdizen, Mert; Leka, Ronaldo; Acar, Rana; Konu, Özlen (Academic Press, 2021-07-20)
      As mutations in SARS-CoV-2 virus accumulate rapidly, novel primers that amplify this virus sensitively and specifically are in demand. We have developed a webserver named CoVrimer by which users can search for and align ...

    • 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 ...

    • Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion 

      Bagislar, S.; Ustuner, I.; Cengiz, B.; Soylemez, F.; Akyerli, C. B.; Ceylaner, S.; Ceylaner, G.; Acar, A.; Ozcelik, T. (Wiley-Blackwell Publishing Asia, 2006)
      Background: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore ...

    • Genetic analysis of Smad4 gene in TGF-Beta signalling pathway in human liver cancer 

      Irmak, Meliha Burcu (Bilkent University, 1998)
      HCC is a multistep genetic disease in which many genomic changes occur as a result of uncontrolled proliferation of hepatocytes. Molecular events leading to HCC is still unclear. Until now, neither an oncogene nor a tumor ...

    • Genetics and mechanisms of essential tremor and related disorders 

      Ünal Gülsüner, Hilal (Bilkent University, 2015)
      Neurodegenerative disorders are characterized by progressive nervous system dysfunction, and they remain as one of the most challenging disorders known to humankind. These disorders have devastating effects on patients ...

    • Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis 

      Uz, E.; Mustafa, C.; Topaloglu, R.; Bilginer, Y.; Dursun, A.; Kasapcopur, O.; Ozen, S.; Bakkaloglu, A.; Ozcelik, T. (John Wiley & Sons, Inc., 2009)
      Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...

    • Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal 

      Gao J.; Aksoy, B. A.; Dogrusoz, U.; Dresdner, G.; Gross, B.; Sumer, S. O.; Sun, Y.; Jacobsen, A.; Sinha, R.; Larsson, E.; Cerami, E.; Sander, C.; Schultz, N. (American Association for the Advancement of Science (A A A S), 2013)
      The cBioPortal for Cancer Genomics (http://cbioportal.org) provides a Web resource for exploring, visualizing, and analyzing multidimensional cancer genomics data. The portal reduces molecular profiling data from cancer ...

    • 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 Snp309 G allele displays high frequency and inverse correlation with somatic P53 mutations in hepatocellular carcinoma 

      Acun T.; Terzioǧlu-Kara, E.; Konu, O.; Ozturk, M.; Yakicier, M. C. (Elsevier, 2010)
      Loss of function of the p53 protein, which may occur through a range of molecular events, is critical in hepatocellular carcinoma (HCC) evolution. MDM2, an oncogene, acts as a major regulator of the p53 protein. A polymorphism ...

    • The miR-644a/CTBP1/p53 axis suppresses drug resistance by simultaneous inhibition of cell survival and epithelialmesenchymal transition in breast cancer 

      Raza, U.; Saatci, O.; Uhlmann, S.; Ansari, S. A.; Eyüpoglu, E.; Yurdusev, E.; Mutlu, M.; Ersan, P. G.; Altundağ, M. K.; Zhang, J. D.; Dogan, H. T.; Güler, G.; Şahin, Ö. (Impact Journals LLC, 2016)
      Tumor cells develop drug resistance which leads to recurrence and distant metastasis. MicroRNAs are key regulators of tumor pathogenesis; however, little is known whether they can sensitize cells and block metastasis ...

    • N-tangle Kanenobu knots with the same Jones polynomials 

      Kutluay, Deniz (Bilkent University, 2010)
      It is still an open question if there exists a non-trivial knot whose Jones polynomial is trivial. One way of attacking this problem is to develop a mutation on knots which keeps the Jones polynomial unchanged yet alters ...

    • Nitrogen and sulfur deprivation differentiate lipid accumulation targets of chlamydomonas reinhardtii 

      Cakmak, T.; Angun P.; Ozkan, A.D.; Cakmak, Z.; Olmez, T.T.; Tekinay, T. (2012)
      Nitrogen (N) and sulfur (S) have inter-related and distinct impacts on microalgal metabolism; with N starvation having previously been reported to induce elevated levels of the biodiesel feedstock material triacylglycerol ...

    • Nuclear exclusion of p33ING1b tumor suppressor protein: explored in HCC cells using a new highly specific antibody 

      Sayan, B.; Emre, N. C. T.; Irmak, M. B.; Ozturk, M.; Cetin Atalay, R. (Mary Ann Liebert, Inc, 2009)
      Mouse monoclonal antibodies (MAb) were generated against p33ING1b tumor suppressor protein. 15B9 MAb was highly specific in recognizing a single protein band of ∼33 kDa endogenous p33ING1b protein from HCC cell lines and ...

    • p53 mutation as a source of aberrant β-catenin accumulation in cancer cells 

      Cagatay, T.; Ozturk, M. (2002)
      β-catenin is involved in both cell-cell interactions and wnt pathway-dependent cell fate determination through its interactions with E-cadherin and TCF/LEF transcription factors, respectively. Cytoplasmic/nuclear levels ...

    • 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-, ...

    • Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly 

      Kaymakçalan, H.; Kaya, İlyas; Kaya, İ.; Binici, N. C.; Nikerel, E.; Özbaran, B.; Aksoy, M. G.; Erbilen, S.; Özyurt, G.; Jahan, N.; Çelik, D.; Yarabaş, K.; Yalçınkaya, Leyla; Durak, S.; Köse, S.; Şençiçek, A. G. E. (John Wiley & Sons Ltd., 2021-07-16)
      Background Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. ...

    • 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 ...