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Πλοήγηση ανά Θέμα "Mutation"

Αποτελέσματα 21-40 από 63

    • 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 ...

    • Finding and analyzing plant metabolic gene clusters 

      Osbourn, A.; Papadopoulou, K. K.; Qi, X.; Field, B.; Wegel, E. (2012)
      Plants produce an array of diverse secondary metabolites with important ecological functions, providing protection against pests, diseases, and abiotic stresses. Secondary metabolites are also a rich source of bioactive ...

    • 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 ...

    • The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G > T) in the HBG2 gene promoter 

      Chassanidis, C.; Kalamaras, A.; Phylactides, M.; Pourfarzad, F.; Likousi, S.; Maroulis, V.; Papadakis, M. N.; Vamvakopoulos, N. K.; Aleporou-Marinou, V.; Patrinos, G. P.; Kollia, P. (2009)
      Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal ...

    • 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 ...

    • Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia 

      Tsantoula, F.; Kioumi, A.; Germenis, A. E.; Speletas, M. (2014)
      A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ...

    • 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.

    • Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases 

      Hadzidimitriou, A.; Stamatopoulos, K.; Belessi, C.; Lalayianni, C.; Stavroyianni, N.; Smilevska, T.; Hatzi, K.; Laoutaris, N.; Anagnostopoulos, A.; Kollia, P.; Fassas, A. (2006)
      Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH ...

    • 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 ...

    • 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 ...

    • Low Prevalence of TERT Promoter, BRAF and RAS Mutations in Papillary Thyroid Cancer in the Greek Population 

      Argyropoulou M., Veskoukis A.S., Karanatsiou P.-M., Manolakelli A., Kostoglou-Athanassiou I., Vilaras G., Karameris A., Liadaki K. (2020)
      Thyroid cancer is a common endocrine malignancy and displays a variety of histological patterns ranging from adenoma to malignant tumors. Molecular diagnostics have given significant insights into the genetic basis of ...

    • Machine learning assisted DSC-MRI radiomics as a tool for glioma classification by grade and mutation status 

      Sudre C.H., Panovska-Griffiths J., Sanverdi E., Brandner S., Katsaros V.K., Stranjalis G., Pizzini F.B., Ghimenton C., Surlan-Popovic K., Avsenik J., Spampinato M.V., Nigro M., Chatterjee A.R., Attye A., Grand S., Krainik A., Anzalone N., Conte G.M., Romeo V., Ugga L., Elefante A., Ciceri E.F., Guadagno E., Kapsalaki E., Roettger D., Gonzalez J., Boutelier T., Cardoso M.J., Bisdas S. (2020)
      Background: Combining MRI techniques with machine learning methodology is rapidly gaining attention as a promising method for staging of brain gliomas. This study assesses the diagnostic value of such a framework applied ...

    • Molecular Basis of Resistance to First-Line Drugs of Mycobacterium tuberculosis/canettii Strains in Greece 

      Florou Z., Mavroidi A., Vatidis G., Daniil Z., Gourgoulianis K., Petinaki E. (2021)
      The aim of this study was to determine the rate and the mutations of genes involved to the first-line antituberculous drugs' resistance of M. tuberculosis/canettii isolated in Central Greece from 2010 to 2019. During the ...

    • Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study 

      Papadimitriou D., Antonelou R., Miligkos M., Maniati M., Papagiannakis N., Bostantjopoulou S., Leonardos A., Koros C., Simitsi A., Papageorgiou S.G., Kapaki E., Alcalay R.N., Papadimitriou A., Athanassiadou A., Stamelou M., Stefanis L. (2016)
      Background: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers. Methods: Longitudinal clinical assessments over 2 years were ...