Browsing by Subject "genetic variability"

Now showing items 1-20 of 22

    • Article  

      Analysis of published PKD1 gene sequence variants [3] 

      Gout, A. M.; Ravine, D.; Harris, Peter C.; Rossetti, S.; Peters, D.; Breuning, M.; Henske, E. P.; Koizumi, A.; Inoue, S.; Shimizu, Y.; Thongnoppakhun, W.; Yenchitsomanus, P. -T; Constantinou-Deltas, Constantinos D.; Sandford, R.; Torra, R.; Turco, A. E.; Jeffery, S.; Fontes, M.; Somlo, Stefan; Furu, L. M.; Smulders, Y. M.; Mercier, B.; Ferec, C.; Burtey, S.; Pei, Y.; Kalaydjieva, L.; Bogdanova, N.; McCluskey, M.; Geon, L. J.; Wouters, C. H.; Reiterova, J.; Stekrová, J.; San Millan, J. L.; Aguiari, G.; Senno, L. D. (2007)
    • Article  

      Authors' reply 

      Constantinou-Deltas, Constantinos D.; Voskarides, Konstantinos (2010)
    • Article  

      C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in cyprus: Clinical and molecular findings in 21 families 

      Constantinou-Deltas, Constantinos D.; Gale, D.; Cook, T.; Voskarides, Konstantinos; Athanasiou, Yiannis; Pierides, Alkis M. (2013)
      Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well ...
    • Article  

      DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome 

      Savige, J.; Ars, E.; Cotton, R. G. H.; Crockett, D.; Dagher, H.; Constantinou-Deltas, Constantinos D.; Ding, J.; Flinter, F.; Pont-Kingdon, G.; Smaoui, N.; Torra, R.; Storey, H. (2014)
      X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...
    • Article  

      Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes 

      Voskarides, Konstantinos; Demosthenous, Panayiota; Papazachariou, Louiza; Arsali, Maria; Athanasiou, Yiannis; Zavros, Michalis; Stylianou, Konstantinos G.; Xydakis, D.; Daphnis, Eugenios K.; Gale, D. P.; Maxwell, P. H.; Elia, Avraam; Pattaro, C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)
      Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...
    • Article  

      Genetic variation of DKK3 may modify renal disease severity in ADPKD 

      Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Demetriou, Kyproula; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, Klea; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D. J. M.; Torra, R.; Winearls, C. G.; Torres, V. E.; Harris, Peter C.; Paterson, A. D.; Pei, Y. (2010)
      Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations ...
    • Article  

      Global genetic variation of HIV-1 infection 

      Anastassopoulou, C. G.; Kostrikis, Leontios G. (2006)
      Variability, both at the population (interhost) as well as at the individual (intrahost) level is a key property of HIV that stems mainly from the inherent infidelity of the reverse transcriptase enzyme that the virus uses ...
    • Article  

      The impact of human allelic variation on HIV-1 disease. 

      Anastassopoulou, C. G.; Kostrikis, Leontios G. (2003)
      Human allelic variants influence the susceptibility to HIV-1 infection and/or the subsequent rates of disease progression towards AIDS that average ten years, although they vary greatly among infected subjects. In this ...
    • 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  

      Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing 

      Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)
      Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
    • Article  

      Meet the editorial board members 

      Kostrikis, Leontios G.; Koka, P. (2015)
    • Article  

      MicroRNAs: A newly described class of encoded molecules that play a role in health and disease 

      Felekkis, Kyriacos N.; Touvana, Evi; Stefanou, Charalambos; Constantinou-Deltas, Constantinos D. (2010)
      14(4): 236-240.
    • 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  

      Near-full genome characterization of unclassified hepatitis c virus strains relating to genotypes 1 and 4 

      Demetriou, Victoria L.; Kostrikis, Leontios G. (2011)
      Near-full genome sequences are presented in this report for the first time of unclassified HCV strains amplified using RT-PCR from plasma of patients living in Cyprus. One strain appears to be a unique genotype-1-like ...
    • Article  

      NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome 

      Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)
    • Article  

      Primary resistance to integrase strand-transfer inhibitors in Europe 

      Moutschen, M.; Casadellà, M.; van Ham, P. M.; Noguera-Julian, M.; van Kessel, A.; Pou, C.; Hofstra, Laura Marije Arije; Santos, J. R.; Garcia, F.; Struck, D.; Alexiev, Ivailo; Bakken Kran, A. M.; Hoepelman, A. I.; Kostrikis, Leontios G.; Somogyi, Sybille; Liitsola, K.; Linka, M.; Nielsen, C.; Otelea, D.; Paraskevis, Dimitrios N.; Poljak, M.; Puchhammer-Stöckl, E.; Staneková, D.; Stanojevic, M.; Van Laethem, K.; Zidovec Lepej, S.; Clotet, B.; Boucher, C. A. B.; Paredes, R.; Wensing, A. M. J.; Puchhammer-Stöckl, 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.; 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.; Beshkov, Danail; Alexiev, Ivailo; Zidovec Lepej, S.; Begovac, J.; Demetriades, Ioannis; Kousiappa, Ioanna; Demetriou, Victoria L.; Hezka, Johana; Linka, M.; Machala, L.; Maly, M.; Nielsen, C.; Jørgensen, L. B.; Gerstoft, J.; Mathiesen, L.; Pedersen, C.; Nielsen, H.; Laursen, A.; Kvinesdal, B.; Liitsola, K.; Ristola, M.; Suni, J.; Sutinen, J.; Hamouda, O.; Kücherer, C.; Berg, T.; Braun, P.; Poggensee, G.; Däumer, M.; Eberle, J.; Heiken, H.; Kaiser, R.; Knechten, H.; Korn, K.; Müller, 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.; Sabatakou, H.; Panos, George; Haratsis, G.; Kordossis, Theodore; Kontos, Athanasios N.; Koratzanis, Georgios; Theodoridou, Maria C.; Mostrou, Glykeria J.; Spoulou, Vana I.; Schmit, J. C.; Struck, D.; Hemmer, R.; Arendt, V.; Staub, T.; Schneider, F.; Roman, F.; Wensing, A. M.; Boucher, C. A.; van de Vijver, D. A.; van Kessel, A.; van, P. H.; Brinkman, K.; Op de, E. L.; van der Ende, M. E.; Hoepelman, I. M.; van Kasteren, M.; Juttmann, J.; Kuipers, M.; Langebeek, N.; Richter, C.; Santegoets, R. M.; Schrijnders-Gudde, L.; Schuurman, R.; van de Ven, B. J.; Åsjö, Birgitta; Bakken, A. M.; Ormaasen, V.; Aavitsland, P.; Otelea, D.; Paraschiv, S.; Tudor, A. M.; 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.; Garcia, F.; Domingo, P.; Galindo, M. J.; Miralles, C.; Del, M. A.; Ribera, E.; Iribarren, J. A.; Ruiz, L.; de la Torre, J.; Vidal, F.; Garcia, F.; Paredes, R. (2015)
      Objectives: The objective of this study was to define the natural genotypic variation of the HIV-1 integrase gene across Europe for epidemiological surveillance of integrase strand-transfer inhibitor (InSTI) resistance. ...
    • Article  

      Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches 

      Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2009)
      SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation ...
    • Article  

      Short communication: Molecular epidemiology of HIV type 1 infection in northern Greece (2009-2010): Evidence of a transmission cluster of HIV Type 1 Subtype A1 drug-resistant strains among men who have sex with men 

      Antoniadou, Zoi Anna; Kousiappa, Ioanna; Skoura, Lemonia G.; Pilalas, Dimitrios; Metallidis, Simeon A.; Nicolaidis, Pavlos; Malisiovas, Nikolaos; Kostrikis, Leontios G. (2014)
      A prospective molecular epidemiology study of HIV-1 infection was conducted in newly diagnosed and antiretroviral-naive patients in Northern Greece between 2009 and 2010 using a predefined enrolling strategy. Phylogenetic ...