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Browsing by Subject "gene frequency"

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    • Article  

      Allele distribution of 15 STR loci used for human identity purposes in the Greek Cypriot population of the island of Cyprus 

      Cariolou, Marios A.; Manoli, Panayiotis; Demetriou, Neophytos; Bashiardes, Evy; Karagrigoriou, Alex; Budowle, Bruce (2006)
      Allele frequencies for 15 STRs (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, Penta E, D16S539, CSF1PO, Penta D and TPOX) in the PowerPlex®-16 System (Promega Corporation) were derived from a ...

    • Article  

      Contrasting frequencies of CCR5Δ32 and CCR2-64I alleles in the Tunisian population [1] 

      Barbouche, R. M.; Hong, L.; Dellagi, K.; Kostrikis, Leontios G. (2001)

    • Article  

      The cypriot and Iranian National Mutation Frequency Databases. 

      Kleanthous, Marios; Patsalis, Philippos C.; Drousiotou, Anthi; Motazacker, M.; Christodoulou, Kyproula; Cariolou, Marios A.; Baysal, E.; Khrizi, K.; Moghimi, B.; Pourfarzad, F.; van Baal, S.; Constantinou-Deltas, Constantinos D.; Najmabadi, H.; Patrinos, G. P. (2006)
      The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...

    • Article  

      Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease 

      Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)
      Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...

    • 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 association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus 

      Lamnissou, Klea; Zirogiannis, P.; Trygonis, S.; Demetriou, Kyproula; Pierides, Alkis M.; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2004)
      Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to ...

    • 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  

      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  

      G to A polymorphism in exon 45 of the COL1A1 gene 

      Sokolov, B. P.; Constantinou-Deltas, Constantinos D.; Tsuneyoshi, T.; Zhuang, J.; Prockop, D. J. (1991)

    • 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  

      Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype 

      Martinson, J. J.; Hong, L.; Karanicolas, R.; Moore, J. P.; Kostrikis, Leontios G. (2000)
      Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...

    • Article  

      Greek Cypriot allele and genotype frequencies for amplitype® PM-DQA1 and D1S80 loci 

      Cariolou, Marios A.; Manoli, Panayiotis; Christoforou, Maria; Bashiardes, Evy; Karagrigoriou, Alex; Budowle, Bruce (1998)
      A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and ...

    • Article  

      HIV-specific cytotoxic T lymphocytes, HLA-A11, and chemokine-related factors may act synergistically to determine HIV resistance in CCR5 Δ32-negative female sex workers in Chiang Rai, northern Thailand 

      Sriwanthana, B.; Hodge, T.; Mastro, T. D.; Dezzutti, C. S.; Bond, K.; Stephens, H. A. F.; Kostrikis, Leontios G.; Limpakarnjanarat, K.; Young, N. L.; Qari, S. H.; Lal, R. B.; Chandanayingyong, D.; McNicholl, J. M. (2001)
      Understanding how highly HIV-exposed individuals remain HIV uninfected may be useful for HIV vaccine design and development of new HIV prevention strategies. To elucidate mechanisms associated with resistance to HIV ...

    • Article  

      Impact of natural chemokine receptor polymorphisms on perinatal transmission of human immunodeficiency virus type 1 

      Kostrikis, Leontios G. (2000)

    • Article  

      Low frequency of CCR5Δ32 allele among Greeks in Cyprus 

      Christodoulou, Chris C.; Poullikas, M.; Neumann, A. U.; Kostrikis, Leontios G. (1997)

    • Article  

      Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population 

      Athanasiou, Yiannis; Voskarides, Konstantinos; Chatzikyriakidou, Anthoula L.; Ignatiou, Anastasia; Demosthenous, Panayiota; Elia, Avraam; Zavros, Michalis; Georgiou, Ioannis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2015)
      Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • Article  

      The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failureAAA 

      Koupepidou, P.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Athanasiou, Yiannis; Zouvani, Ioanna; Pierides, Alkis M. (2005)
      Aim. The homozygous 677TT mutation of the MTHFR gene has been linked to deep vein thrombosis and to arterial atherosclerotic events of the coronary, carotid and peripheral arteries. Its putative association with renal ...

    • Article  

      New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles 

      Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)
      The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...

    • Article  

      Pvull polymorphism at the COL1A2 locus 

      Constantinou-Deltas, Constantinos D.; Spotila, L. D.; Zhuang, J.; Sereda, L.; Hanning, C.; Prockop, D. J. (1990)

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