Browsing by Subject "genetics"

Now showing items 21-40 of 87

    • Article  

      Depletion of histone N-terminal-acetyltransferase Naa40 induces p53-independent apoptosis in colorectal cancer cells via the mitochondrial pathway 

      Pavlou, Demos; Kirmizis, Antonis (2016)
      Protein N-terminal acetylation is an abundant post-translational modification in eukaryotes implicated in various fundamental cellular and biochemical processes. This modification is catalysed by evolutionarily conserved ...
    • Article  

      Development of a molecular-beacon-based multi-allelic real-time RT-PCR assay for the detection of human coronavirus causing severe acute respiratory syndrome (SARS-CoV): A general methodology for detecting rapidly mutating viruses 

      Hadjinicolaou, Andreas V.; Farcas, Gabriella A.; Demetriou, Victoria L.; Mazzulli, T.; Poutanen, Susan M.; Willey, B. M.; Low, D. E.; Butany, Jagdish W.; Asa, S. L.; Kain, K. C.; Kostrikis, Leontios G. (2011)
      Emerging infectious diseases have caused a global effort for development of fast and accurate detection techniques. The rapidly mutating nature of viruses presents a major difficulty, highlighting the need for specific ...
    • Article  

      Direct conversion of mouse embryonic fibroblasts into functional keratinocytes through transient expression of pluripotency-related genes 

      Iacovides, D.; Rizki, G.; Lapathitis, Georgios; Strati, Katerina (2016)
      The insufficient ability of specialized cells such as neurons, cardiac myocytes, and epidermal cells to regenerate after tissue damage poses a great challenge to treat devastating injuries and ailments. Recent studies ...
    • 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  

      Effects of CCR5-Δ32, CCR2-64I, and SDF-1 3′ a alleles on HIV-1 disease progression: An international meta-analysis of individual-patient data 

      Ioannidis, J. P. A.; Rosenberg, P. S.; Goedert, J. J.; Ashton, L. J.; Benfield, T. L.; Buchbinder, S. P.; Coutinho, R. A.; Eugen-Olsen, J.; Gallart, T.; Katzenstein, T. L.; Kostrikis, Leontios G.; Kuipers, H.; Louie, L. G.; Mallal, S. A.; Margolick, J. B.; Martinez, O. P.; Meyer, L.; Michael, N. L.; Operskalski, E.; Pantaleo, G.; Rizzardi, G. P.; Schuitemaker, H.; Sheppard, H. W.; Stewart, G. J.; Theodorou, I. D.; Ullum, H.; Vicenzi, E.; Vlahov, D.; Wilkinson, D.; Workman, C.; Zagury, J. -F; O'Brien, T. R. (2001)
      Background: Studies relating certain chemokine and chemokine receptor gene alleles with the outcome of HIV-1 infection have yielded inconsistent results. Objective: To examine postulated associations of genetic alleles ...
    • Article  

      Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus 

      Dardiotis, Efthymios; Koutsou, Pantelitsa; Papanicolaou, Eleni Zamba; Vonta, Filia; Kladi, Angelica; Vassilopoulos, Dimitrios C.; Hadjigeorgiou, Georgios M.; Christodoulou, Kyproula; Kyriakides, Theodoros (2009)
      Objectives. To define the incidence and prevalence of familial amyloidotic polyneuropathy (FAP) TTRVal30Met on the island of Cyprus. To study the clinical phenotype and genetic features of FAP TTRVal30Met in the Cypriot ...
    • Article  

      A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics 

      Mizzi, C.; Dalabira, E.; Kumuthini, J.; Dzimiri, N.; Balogh, István; Başak, N.; Böhm, R.; Borg, J.; Borgiani, P.; Bozina, N.; Bruckmueller, H.; Burzynska, B.; Carracedo, A.; Cascorbi, I.; Constantinou-Deltas, Constantinos D.; Dolzan, V.; Fenech, A.; Grech, G.; Kasiulevicius, V.; Kádaši, L.; Kučinskas, V.; Khusnutdinova, E.; Loukas, Y. L.; Macek, M.; Makukh, H.; Mathijssen, R.; Mitropoulos, K.; Mitropoulou, C.; Novelli, G.; Papantoni, I.; Pavlovic, S.; Saglio, G.; Setric, J.; Stojiljkovic, M.; Stubbs, A. P.; Squassina, A.; Torres, M.; Turnovec, M.; Van Schaik, R. H.; Voskarides, Konstantinos; Wakil, S. M.; Werk, A.; Zompo, M. D.; Zukic, B.; Katsila, T.; Lee, M. T. M.; Motsinger-Rief, A.; Leod, H. L. M.; Van Der Spek, P. J.; Patrinos, G. P. (2016)
      Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug ...
    • Article  

      Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews 

      Maayan, S.; Zhang, L.; Shinar, E.; Ho, J.; He, T.; Manni, N.; Kostrikis, Leontios G.; Neumann, A. U. (2000)
      Recent studies have shown higher frequencies of the CCR5-Δ32 allele and the CCR5-A32/Δ32 genotype, which confers protection against HIV infection, in northern Europe as compared to Mediterranean countries. Here, we analyse ...
    • Article  

      Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria 

      Voskarides, Konstantinos; Arsali, Maria; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)
      Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 ...
    • Article  

      Expression of type I procollagen genes. 

      Prockop, D. J.; Kadler, K. E.; Hojima, Y.; Constantinou-Deltas, Constantinos D.; Dombrowski, K. E.; Kuivaniemi, H.; Tromp, G.; Vogel, B. (1988)
      All of the type I collagen in connective tissue is the product of one structural gene for the pro alpha 1(I) chain and another for the pro alpha 2(I) chain of type I procollagen. An intriguing question therefore is how the ...
    • Article  

      Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus 

      Constantinou-Deltas, Constantinos D.; Mean, R.; Rossou, Elena; Costi, Constantina Eleni; Koupepidou, P.; Hadjiyanni, I.; Koptides, Michael; Hadjiroussos, V.; Petrou, P.; Pierides, Alkis M.; Lamnissou, Klea; Koptides, M. (2002)
      Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...
    • Article  

      Familial Mediterranean fever associated pyrin mutations in Greece 

      Print Email Konstantopoulos, Konstantinos; Kanta, Alexandra; Constantinou-Deltas, Constantinos D.; Atamian, V.; Mavrogianni, D.; Tzioufas, A. G.; Kollainis, I.; Ritis, K.; Moutsopoulos, H. M. (2003)
      Objective: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. Patients and methods: 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) ...
    • Article  

      A family with the branchio-oto-renal syndrome: Clinical and genetic correlations 

      Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)
      Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
    • Article  

      Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis 

      Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota M.; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos A.; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • Article  

      A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population 

      Voskarides, Konstantinos; Stefanou, Charalambos; Pieri, Myrtani; Demosthenous, Panayiota; Felekkis, Kyriacos N.; Arsali, Maria; Athanasiou, Yiannis; Xydakis, D.; Stylianou, Konstantinos G.; Daphnis, Eugenios K.; Goulielmos, George N.; Loizou, P.; Savige, J.; Höhne, M.; Völker, L. A.; Benzing, T.; Maxwell, P. H.; Gale, D. P.; Gorski, M.; Böger, C.; Kollerits, B.; Kronenberg, F.; Paulweber, B.; Zavros, Michalis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2017)
      Background Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a ...
    • Article  

      Genetic analysis of HIV type 1 strains from newly infected untreated patients in cyprus: high genetic diversity and low prevalence of drug resistance. 

      Kousiappa, Ioanna; van de Vijver, D. A.; Demetriades, Ioannis; Kostrikis, Leontios G. (2009)
      Abstract The molecular epidemiology of HIV-1 infection was first studied in Cyprus in the mid-1990s, but the extent of HIV-1 diversity and the prevalence of drug resistance have remained elusive. In an effort to address ...
    • Article  

      Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population 

      Hadjipanagi, Despina; Chrysanthou, S.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)
      Background: Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding after warfarin prescription. A variant in the vitamin ...
    • 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 ...