Browsing by Subject "Mutation"

Now showing items 21-40 of 54

    • Article  

      Global profiling of EGFR gene mutation, amplification, regulation and tissue protein expression in unknown primary carcinomas: To target or not to target? 

      Dova, L.; Pentheroudakis, George; Georgiou, I.; Malamou-Mitsi, Vassiliki D.; Vartholomatos, G.; Fountzilas, George; Kolaitis, N.; Kitsou, E.; Pavlidis, Nicholas (2007)
      Introduction: Epidermal growth factor receptor (EGFR) signalling contributes to malignant transformation and survival. We studied molecular predictors of benefit from EGFR-modulating therapies in patients with cancer of ...
    • Article  

      Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis 

      Gale, D. P.; De Jorge, E. G.; Cook, H. T.; Martinez-Barricarte, R.; Hadjisavvas, Andreas; McLean, A. G.; Pusey, C. D.; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Athanasiou, Yiannis; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D.; Palmer, A.; De Cordoba, S. R.; Maxwell, P. H.; Pickering, M. C.; Frémeaux-Bacchi, V. (2010)
      Summary Background Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a ...
    • Article  

      The impact of iron overload and genotype on gonadal function in women with thalassaemia major 

      Skordis, Nicos; Gourni, Maritsa; Kanaris, Constantinos; Toumba, Meropi; Kleanthous, Marina; Karatzia, Ntina; Pavlidis, Nicholas; Angastiniotis, Michael (2004)
      OBJECTIVE: The purpose of this study is to evaluate the impact of chronic iron overload and genotype on gonadal function in women with thalassaemia major.
    • Article  

      Implications of HIV-1 M group polymorphisms on integrase inhibitor efficacy and resistance: Genetic and structural in silico analyses 

      Loizidou, Eriketi Z.; Kousiappa, Ioanna; Zeinalipour-Yazdi, Constantinos D.; Van De Vijver, D. A. M. C.; Kostrikis, Leontios G. (2009)
      The extensive polymorphisms among HIV-1 subtypes have been implicated in drug resistance development. Integrase inhibitors represent the latest addition to the treatment of HIV-1, and their efficacy and resistance patterns ...
    • Article  

      Implications of HIV-1 M group polymorphisms on integrase inhibitor efficacy and resistance: Genetic and structural in silico analyses 

      Loizidou, Eriketi Z.; Kousiappa, Ioanna; Zeinalipour-Yazdi, Constantinos D.; Van De Vijver, D. A. M. C.; Kostrikis, Leontios G. (2009)
      The extensive polymorphisms among HIV-1 subtypes have been implicated in drug resistance development. Integrase inhibitors represent the latest addition to the treatment of HIV-1, and their efficacy and resistance patterns ...
    • Article  

      Increase in transmitted resistance to non-nucleoside reverse transcriptase inhibitors among newly diagnosed HIV-1 infections in Europe 

      Moutschen, M.; Frentz, D.; Van de Vijver, D. A. M. C.; Abecasis, A. B.; Albert, Jan; Hamouda, O.; Jørgensen, L. B.; Ku¨cherer, C.; Struck, D.; Schmit, J. -C; Vercauteren, J.; A˚sjo¨, B.; Balotta, Claudia; Beshkov, Danail; Camacho, Ricardo J.; Clotet, B.; Coughlan, S.; Griskevicius, A.; Grossman, Z.; Horban, A.; Kolupajeva, T.; Korn, K.; Kostrikis, Leontios G.; Liitsola, K.; Linka, M.; Nielsen, C.; Otelea, D.; Paraskevis, Dimitrios N.; Paredes, R.; Poljak, M.; Puchhammer, Stockl E.; So¨nnerborg, A.; Stanekova, D.; Stanojevic, M.; Van Wijngaerden, E.; Wensing, A. M. J.; Boucher, C. A. B.; Puchhammer, Stockl E.; Sarcletti, M.; Schmied, B.; Geit, M.; Balluch, G.; Vandamme, A. -M; Vercauteren, J.; Derdelinckx, I.; Sasse, A.; Bogaert, M.; Ceunen, H.; De Roo, A.; De Wit, S.; Echahidi, F.; Fransen, K.; Goffard, J. -C; Goubau, P.; Goudeseune, E.; Yombi, J. -C; Lacor, P.; Liesnard, C.; Pierard, D.; Rens, R.; Schrooten, Y.; Vaira, D.; Vandekerckhove, L. P. R.; Van den Heuvel, A.; Van Der Gucht, B.; Van Ranst, M.; Van Wijngaerden, E.; Vandercam, B.; Vekemans, M.; Verhofstede, C.; Clumeck, N.; Van Laethem, K.; Demetriades, Ioannis; Kousiappa, Ioanna; Demetriou, Victoria L.; Hezka, Johana; Bruckova, M.; Linka, M.; Machala, L.; Nielsen, C.; Jørgensen, L. B.; Gerstoft, J.; Mathiesen, L.; Pedersen, C.; Nielsen, H.; Laursen, A.; Kvinesdal, B.; Salminen, M.; Ristola, M.; Liitsola, K.; Suni, J.; Sutinen, J.; Korn, K.; Ku¨cherer, C.; Berg, T.; Braun, P.; Poggensee, G.; Da¨umer, M.; Eberle, J.; Heiken, H.; Kaiser, R.; Knechten, H.; Mu¨ller, H.; Neifer, S.; Schmidt, B.; Walter, H.; Gunsenheimer-Bartmeyer, B.; Harrer, T.; Paraskevis, Dimitrios N.; Hatzakis, Angelos E.; Magiorkinis, Emmanouil N.; Hatzitheodorou, Eleni; Haida, Catherine; Zavitsanou, Assimina; Magiorkinis, Gkikas; Lazanas, Marios C.; Chini, Maria C.; Magafas, N.; Tsogas, Nickolaos; Paparizos, Vassilios A.; Kourkounti, Sofia; Antoniadou, Anastasia C.; Papadopoulos, Antonios I.; Panagopoulos, Periklis; Poulakou, Garyphallia G.; Sakka, V.; Chryssos, Georgios; Drimis, Stylianos; Gargalianos, Panagiotis; Lelekis, Moyssis I.; Chilomenos, G.; Psichogiou, Mina A.; Daikos, George L.; Panos, George; Haratsis, G.; Kordossis, Theodore; Kontos, Athanasios N.; Koratzanis, Georgios; Theodoridou, Maria C.; Mostrou, Glykeria J.; Spoulou, Vana I.; Coughlan, S.; De Gascun, C.; Byrne, C.; Duffy, M.; Bergin, C.; Reidy, D.; Farrell, G.; Lambert, J.; O'Connor, E.; Rochford, A.; Low, J.; Coakely, P.; O'Dea, S.; Hall, W.; Grossman, Z.; Levi, I.; Chemtob, D.; Balotta, Claudia; Riva, C.; Mussini, C.; Caramma, I.; Capetti, A.; Colombo, M. C.; Rossi, C.; Prati, F.; Tramuto, F.; Vitale, F.; Ciccozzi, M.; Angarano, G.; Rezza, G.; Schmit, J. C.; Struck, D.; Hemmer, R.; Arendt, V.; Staub, T.; Schneider, F.; Roman, F.; Wensing, A. M. J.; Boucher, C. A. B.; Van Kessel, A.; van Bentum, P. H. M.; Brinkman, K.; op de Coul, E. L.; van der Ende, M. E.; Hoepelman, I.; van Kasteren, M.; Juttmann, J.; Kuipers, M.; Langebeek, N.; Richter, C.; Santegoets, R.; Schrijnders-Gudde, L.; Schuurman, R.; van de Ven, B. J. M.; A˚sjo¨, B.; Ormaasen, V.; Aavitsland, P.; Horban, A.; Stanczak, J. J.; Stanczak, G. P.; Firlag-Burkacka, E.; Wiercinska-Drapalo, A.; Jablonowska, E.; Malolepsza, E.; Leszczyszyn-Pynka, M.; Szata, W.; Camacho, Ricardo J.; Palma, C.; Borges, F.; Paixa&tild; o, T.; Duque, V.; Araújo, F.; Jevtovic, D.; Salemovic, D.; Stanekova, D.; Habekova, M.; Mokráš, Miloš; Truska, P.; Poljak, M.; Lunar, M.; Babic, Dunja Z.; Tomazic, J.; Vidmar, L.; Vovko, T.; Karner, P.; Clotet, B.; Domingo, P.; Galindo, M. J.; Miralles, C.; del Pozo, M. A.; Ribera, E.; Iribarren, J. A.; Ruiz, L.; de la Torre, J.; Vidal, F.; Garcia, F.; Paredes, R.; Albert, Jan; Heidarian, A.; Aperia-Peipke, K.; Axelsson, M.; Mild, M.; Karlsson, A.; So¨nnerborg, A.; Thalme, A.; Nave´r, L.; Bratt, G.; Karlsson, A.; Blaxhult, A.; Gissle´n, M.; Svennerholm, B.; Bergbrant, I.; Björkman, Per; Sa¨ll, C.; Mellgren, A˚; Lindholm, A.; Kuylenstierna, N.; Montelius, R.; Azimi, F.; Johansson, B.; Carlsson, M.; Johansson, E.; Ljungberg, B.; Ekvall, H.; Strand, A.; Ma¨kitalo, S.; o¨berg, S.; Holmblad, P.; Ho¨fer, M.; Holmberg, H.; Josefson, P.; Ryding, U. (2014)
      Background: One out of ten newly diagnosed patients in Europe was infected with a virus carrying a drug resistant mutation. We analysed the patterns over time for transmitted drug resistance mutations (TDRM) using data ...
    • Article  

      The interplay between DSL proteins and ubiquitin ligases in Notch signaling 

      Pitsouli, Chrysoula; Delidakis, Christos (2005)
      Lateral inhibition is a pattern refining process that generates single neural precursors from a field of equipotent cells and is mediated via Notch signaling. Of the two Notch ligands Delta and Serrate, only the former was ...
    • Article  

      Involvement of host DNA gyrase in growth of bacteriophage T5 

      Constantinou, Andreas I.; Voelkel-Meiman, K.; Sternglanz, R.; McCorquodale, M. M.; McCorquodale, D. J. (1986)
      Bacteriophage T5 did not grow at the nonpermissive temperature of 42°C in Escherichia coli carrying a temperature-sensitive mutation in gyrB [gyrB(Ts)], but it did grow in gyrA(Ts) mutants at 42°C. These findings indicate ...
    • Article  

      KRAS, NRAS and BRAF mutations in Greek and Romanian patients with colorectal cancer: A cohort study 

      Negru, S.; Papadopoulou, E.; Apessos, A.; Stanculeanu, D. L.; Ciuleanu, E.; Volovat, C.; Croitoru, A.; Kakolyris, S.; Aravantinos, Gerasimos; Ziras, N.; Athanasiadis, E.; Touroutoglou, N.; Pavlidis, Nicholas; Kalofonos, H. P.; Nasioulas, G. (2014)
      Objectives: Treatment decision-making in colorectal cancer is often guided by tumour tissue molecular analysis. The aim of this study was the development and validation of a high-resolution melting (HRM) method for the ...
    • Article  

      Lung cancer during pregnancy: An emerging issue 

      Pavlidis, Nicholas (2008)
    • Article  

      Molecular characterization of HIV type 1 strains from newly diagnosed patients in Cyprus (2007-2009) recovers multiple clades including unique recombinant strains and lack of transmitted drug resistance 

      Kousiappa, Ioanna; Achilleos, Charis; Hezka, Johana; Lazarou, Yiota; Othonos, Katerina M.; Demetriades, Ioannis; Kostrikis, Leontios G. (2011)
      HIV-1 evolution generates substantial genetic diversity among isolates, the majority of which are represented in areas where multiple strains cocirculate. A heterogeneous genetic HIV-1 pool has been found in Cyprus, directing ...
    • Article  

      Molecular genetics of familial hematuric diseases 

      Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Voskarides, Konstantinos (2013)
      The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 ...
    • Article  

      Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene 

      Feldman, M.; Prikis, Marios; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2006)
      The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...
    • Article  

      Molecular markers and biological targeted therapies in metastatic colorectal cancer: expert opinion and recommendations derived from the 11th ESMO/World Congress on Gastrointestinal Cancer, Barcelona, 2009. 

      Cutsem, E. Van; Dicato, M.; Arber, N.; Berlin, J.; Cervantes, A.; Ciardiello, F.; Gramont, A. De; Diaz-Rubio, E.; Ducreux, M.; Geva, R.; Glimelius, B.; Glynne-Jones, R.; Grothey, Axel; Gruenberger, T.; Haller, D.; Haustermans, K.; Labianca, R.; Lenz, H. J.; Minsky, B.; Nordlinger, B.; Ohtsu, A.; Pavlidis, Nicholas; Rougier, P.; Schmiegel, W.; Velde, C. Van de; Schmoll, H. J.; Sobrero, A.; Tabernero, Josep (2010)
      The article summarizes the expert discussion and recommendations on the use of molecular markers and of biological targeted therapies in metastatic colorectal cancer (mCRC), as well as a proposed treatment decision strategy ...
    • Article  

      Multiplex molecular diagnosis of MEFV mutations in patients with Familial Mediterranean fever by light-cycler real-time PCR 

      Rossou, Elena; Kouvatsi, Anastasia; Aslanidis, Charalampos; Constantinou-Deltas, Constantinos D. (2005)
    • Article  

      Mutation analysis of coding sequences for type I procollagen in individuals with low bone density 

      Spotila, L. D.; Colige, A.; Sereda, L.; Constantinou-Deltas, Constantinos D.; Whyte, M. P.; Riggs, L. B.; Shaker, J. L.; Spector, T. D.; Hume, E.; Olsen, N.; Attie, M.; Tenenhouse, A.; Shane, E.; Briney, W.; Prockop, D. J. (1994)
      Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with ...
    • Article  

      Mutations of the human polycystic kidney disease 2 (PKD2) gene 

      Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. ...
    • Article  

      N-alpha-terminal Acetylation of Histone H4 Regulates Arginine Methylation and Ribosomal DNA Silencing 

      Schiza, V.; Molina-Serrano, D.; Kyriakou, DImitris; Hadjiantoniou, A.; Kirmizis, Antonis (2013)
      Post-translational modifications of histones play a key role in DNA-based processes, like transcription, by modulating chromatin structure. N-terminal acetylation is unique among the numerous histone modifications because ...
    • Article  

      Neural hyperplasia induced by RNA interference with m4/mα gene activity 

      Nagel, A. C.; Apidianakis, Yiorgos; Wech, I.; Maier, D.; Delidakis, Christos; Preiss, A. (2000)
      The E(spl) complex (E(spl)-C) contains three different classes of genes that are downstream of Notch signaling. The bHLH genes mediate the Notch signal by repressing proneural gene activity, for example during the ...
    • Article  

      Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients 

      Ritis, K.; Giaglis, Stavros; Spathari, N.; Micheli, A.; Zonios, D.; Tzoanopoulos, D.; Constantinou-Deltas, Constantinos D.; Rafail, S.; Mean, R.; Papadopoulos, Vassilios P.; Tzioufas, A. G.; Moutsopoulos, H. M.; Kartalis, G. (2004)
      Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...