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Browsing by Subject "Base Sequence"

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    • 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  

      A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta 

      Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, Constantinos D.; Cetta, G.; Pignatti, P. F. (1994)
      Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint ...

    • Article  

      Cellular HIV-1 DNA levels in drug sensitive strains are equivalent to those in drug resistant strains in newly-diagnosed patients in Europe 

      Demetriou, Victoria L.; van de Vijver, D. A. M. C.; Kousiappa, Ioanna; Balotta, Claudia; Clotet, B.; Grossman, Z.; Jørgensen, L. B.; Lepej, S. Z.; Levy, I.; Nielsen, C.; Paraskevis, Dimitrios N.; Poljak, M.; Roman, F.; Ruiz, L.; Schmidt, J. -C; Vandamme, A. -M; van Laethem, K. V.; Vercauteren, J.; Kostrikis, Leontios G. (2010)
      Background HIV-1 genotypic drug resistance is an important threat to the success of antiretroviral therapy and transmitted resistance has reached 9% prevalence in Europe. Studies have demonstrated that HIV-1 DNA load in ...

    • Article  

      Coexpression of H2-Mb and H2-Ab genes during fetal and postnatal development 

      Georgiades, Pantelis; Kieszkiewicz, J.; Rozycka, M.; Brickell, P. M.; Lund, T. (1996)
      The major histocompatibility complex (MHC) class II-like molecules, H2-M, have an essential role in processing and presentation of antigens by the MHC class II molecules, because functional inactivation of these genes lead ...

    • Article  

      Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene 

      Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)
      Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...

    • Article  

      D-alpha-tocopheryl polyethylene glycol succinate (TPGS) induces cell cycle arrest and apoptosis selectively in Survivin-overexpressing breast cancer cells 

      Neophytou, Christiana M.; Constantinou, Constantina; Papageorgis, P.; Constantinou, Andreas I. (2014)
      d-alpha-tocopheryl polyethylene glycol succinate (TPGS) is a vitamin E derivative that has been intensively applied as a vehicle for drug delivery systems to enhance drug solubility and increase the oral bioavailability ...

    • 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  

      Differential expression of the rat retinoid X receptor γ gene during skeletal muscle differentiation suggests a role in myogenesis 

      Georgiades, Pantelis; Brickell, P. M. (1997)
      Even though previous studies have shown that transcripts encoding the murine retinoid X receptor γ (RXRγ) are present in skeletal muscle of mouse embryos and that cultured myoblasts are induced to differentiate upon retinoid ...

    • Article  

      Down-regulation of glutatione S-transferase α 4 (hGSTA4) in the muscle of thermally injured patients is indicative of susceptibility to bacterial infection 

      Apidianakis, Yiorgos; Que, Y. -A; Xu, W.; Tegos, G. P.; Zimniak, P.; Hamblin, M. R.; Tompkins, R. G.; Xiao, W.; Rahme, L. G. (2012)
      Patients with severe burns are highly susceptible to bacterial infection. While immunosuppression facilitates infection, the contribution of soft tissues to infection beyond providing a portal for bacterial entry remains ...

    • Article  

      An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy 

      Sharp, N. J. H.; Kornegay, J. N.; Van Camp, S. D.; Herbstreith, M. H.; Secore, S. L.; Kettle, S.; Hung, W. -Y; Constantinou-Deltas, Constantinos D.; Dykstra, M. J.; Roses, A. D.; Bartlett, R. J. (1992)
      Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions ...

    • 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  

      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  

      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  

      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 analysis of human immunodeficiency virus type 1 strains from patients in cyprus: Identification of a new subtype designated subtype I 

      Kostrikis, Leontios G.; Bagdades, Evis K.; Cao, Yun Zhen; Zhang, Lin Qi; Dimitriou, D.; Ho, David D. (1995)
      DNA sequences encoding the C2 to V3 region of envelope glycoprotein gp120 of human immunodeficiency virus type 1 (HIV-1) were amplified by PCR from uncultured peripheral blood mononuclear cells obtained from 24 of 25 HIV-1- ...

    • Article  

      Genetic analysis of human immunodeficiency virus type 1 strains in Kenya: A comparison using phylogenetic analysis and a combinatorial melting assay 

      Robbins, K. E.; Kostrikis, Leontios G.; Brown, T. M.; Anzala, O.; Shin, S.; Plummer, F. A.; Kalish, M. L. (1999)
      We surveyed human immunodeficiency virus (HIV) subtype distribution from peripheral blood mononuclear cells (PBMCs) collected in 1995 from 24 HIV-1- infected Kenyan residents (specimens from predominantly male truck drivers ...

    • Article  

      Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease 

      Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)
      Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

    • Article  

      Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease 

      Koptides, Michael; Hadjimichael, C.; Koupepidou, P.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1999)
      Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for ~85% of cases whereas PKD2 on chromosome 4 accounts for ~15%. Mutations in the PKD3 gene ...

    • Article  

      Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities 

      Koufaris, Costas; Papagregoriou, Gregory N.; Kousoulidou, Ludmila; Moutafi, Maria; Tauber, Maïthé Thérèse; Jouret, Béatrice; Kieffer, Isabelle; Constantinou-Deltas, Constantinos D.; Tanteles, George A.; Anastasiadou, Violetta C.; Patsalis, Philippos C.; Sismani, Carolina (2015)
      MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...

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