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Listar por tema "mutation"

Mostrando ítems 21-40 de 76

    • Evolution of imidacloprid resistance in Myzus persicae in Greece and susceptibility data for spirotetramat 

      Voudouris C.C., Williamson M.S., Skouras P.J., Kati A.N., Sahinoglou A.J., Margaritopoulos J.T. (2017)
      BACKGROUND: Myzus persicae s.l. is a major crop pest globally and has evolved resistance to a range of insecticide classes making it increasingly difficult to control in some areas. Here we compare bioassay monitoring data ...

    • An evolutionary theory based on a protein-mRNA co-synthesis hypothesis 

      Gounaris, Y. (2011)
      A new hypothesis is proposed, that early life possessed a mechanism for the simultaneous synthesis of a polypeptide and its coding mRNA. Early tRNAs and mRNAs are considered to have been pairs of simple complementary ...

    • Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia 

      Triantafyllou E.-A., Georgatsou E., Mylonis I., Simos G., Paraskeva E. (2018)
      Hypoxia inducible factor-1 (HIF-1) supports survival of normal cells under low oxygen concentration and cancer cells in the hypoxic tumor microenvironment. This involves metabolic reprogramming via upregulation of glycolysis, ...

    • Fabry disease due to D313Y and novel GLA mutations 

      Koulousios K., Stylianou K., Pateinakis P., Zamanakou M., Loules G., Manou E., Kyriklidou P., Katsinas C., Ouzouni A., Kyriazis J., Speletas M., Germenis A.E. (2017)
      Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ...

    • Genetic basis of Parkinson disease 

      Xiromerisiou, G.; Dardiotis, E.; Tsimourtou, V.; Kountra, P. M.; Paterakis, K. N.; Kapsalaki, E. Z.; Fountas, K. N.; Hadjigeorgiou, G. M. (2010)
      Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...

    • Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants 

      Dardiotis E., Siokas V., Sokratous M., Tsouris Z., Michalopoulou A., Andravizou A., Dastamani M., Ralli S., Vinceti M., Tsatsakis A., Hadjigeorgiou G.M. (2018)
      Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease of the central nervous system, characterized by progressive loss of motor neurons, and occurring in both sporadic and familial form. The origin of ...

    • Genetic sexing strains for the population suppression of the mosquito vector Aedes aegypti: Aedes aegypti genetic sexing strains 

      Koskinioti P., Augustinos A.A., Carvalho D.O., Misbah-Ul-Haq M., Pillwax G., De La Fuente L.D., Salvador-Herranz G., Herrero R.A., Bourtzis K. (2021)
      Aedes aegypti is the primary vector of arthropod-borne viruses including dengue, chikungunya and Zika. Vector population control methods are reviving to impede disease transmission. An efficient sex separation for male-only ...

    • Genetics of Hereditary Angioedema Revisited 

      Germenis A.E., Speletas M. (2016)
      Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

    • Genomic analysis of recombinant Sabin clinical isolates 

      Paximadi, E.; Karakasiliotis, I.; Mamuris, Z.; Stathopoulos, C.; Krikelis, V.; Markoulatos, P. (2006)
      Recombination in Poliovirus vaccine strains is a very frequent phenomenon. In this report 23 polio/Sabin strains isolated from healthy vaccinees or from VAPP patients after OPV administration, were investigated in order ...

    • The greek variant in app gene: The phenotypic spectrum of app mutations 

      Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)
      Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...

    • Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment 

      Magerl M., Germenis A.E., Maas C., Maurer M. (2017)
      A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients ...

    • Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome 

      Psychogios K., Xiromerisiou G., Kargiotis O., Safouris A., Fiolaki A., Bonakis A., Paraskevas G.P., Giannopoulos S., Tsivgoulis G. (2021)
      Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek ...

    • HIF-2α phosphorylation by CK1δ promotes erythropoietin secretion in liver cancer cells under hypoxia 

      Pangou E., Befani C., Mylonis I., Samiotaki M., Panayotou G., Simos G., Liakos P. (2016)
      Hypoxia inducible factor 2 (HIF-2) is a transcriptional activator implicated in the cellular response to hypoxia. Regulation of its inducible subunit, HIF-2α (also known as EPAS1), involves posttranslational modifications. ...

    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece 

      Sarri C.A., Markantoni M., Hadjichristidoulou C., Mamuris Z. (2016)
      The new allele DRB1*11:192 exon 2 differs from the DRB1*11:01:01:01 by three substitutions. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

    • Insecticide resistance status of Myzus persicae in Greece: Long-term surveys and new diagnostics for resistance mechanisms 

      Voudouris C.C., Kati A.N., Sadikoglou E., Williamson M., Skouras P.J., Dimotsiou O., Georgiou S., Fenton B., Skavdis G., Margaritopoulos J.T. (2016)
      BACKGROUND: Myzus persicae nicotianae is an important pest in Greece, controlled mainly by neonicotinoids. Monitoring of the aphid populations for resistance mechanisms is essential for effective control. RESULTS: Two new ...

    • Lamin B receptor: Interplay between structure, function and localization 

      Nikolakaki E., Mylonis I., Giannakouros T. (2017)
      Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a hydrophilic N-terminal end protruding into the nucleoplasm, eight hydrophobic segments that span the membrane and a short, nucleoplasmic ...

    • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants 

      Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., ELee K., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Von Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C.A., Mohand-Sa'd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Jr., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Van Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Den Hollander A.I., Fauser S., WYates J.R., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M. (2016)
      Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...

    • Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine 

      Germenis A.E., Rijavec M., Veronez C.L. (2021)
      Biochemical studies performed during the last decades resulted in the development of various innovative medicinal products for hereditary angioedema (HAE). These therapeutic agents target the production or the function of ...

    • A Lotus japonicus E3 ligase interacts with the Nod Factor Receptor 5 and positively regulates nodulation 

      Tsikou D., Ramirez E.E., Psarrakou I.S., Wong J.E., Jensen D.B., Isono E., Radutoiu S., Papadopoulou K.K. (2018)
      Background: Post-translational modification of receptor proteins is involved in activation and de-activation of signalling systems in plants. Both ubiquitination and deubiquitination have been implicated in plant interactions ...