Όλο το DSpace

Πλοήγηση ανά Θέμα "allele"

Αποτελέσματα 21-40 από 76

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease? 

      Zintzaras, E.; Stefanidis, I.; Santos, M.; Vidal, F. (2006)
      Case-control studies that have investigated the association between alcoholism and alcohol-induced liver damage and the ADH2, ADH3, CYP2E1, and ADLH2 polymorphisms have reported controversial or inconclusive results. Thus, ...

    • Drug-Induced Skin Adverse Reactions: The Role of Pharmacogenomics in Their Prevention 

      Gerogianni K., Tsezou A., Dimas K. (2018)
      Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions ...

    • Effect of integrin AV and B8 gene polymorphisms in patients with traumatic brain injury 

      Dardiotis E., Siokas V., Aloizou A.-M., Karampinis E., Brotis A.G., Grigoriadis S., Paterakis K., Dardioti M., Komnos A., Kapsalaki E., Fountas K., Hadjigeorgiou G.M. (2019)
      Background: Α few genetic variants are associated with the outcome after traumatic brain injury (TBI). Integrins are glycoprotein receptors that play an important role in the integrity of microvasculature of the brain. ...

    • Embryological results of couples undergoing ICSI-ET treatments with males carrying the single nucleotide polymorphism rs175080 of the MLH3 gene 

      Anifandis G., Markandona O., Dafopoulos K., Messini C., Tsezou A., Dimitraki M., Georgoulias P., Daponte A., Messinis I. (2017)
      Human MLH3 (hMLH3) gene has been suggested to play a role in the DNA mismatch repair mechanism, while it may also be associated with abnormal spermatogenesis and subsequently male infertility. The aim of the present study ...

    • Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia 

      Hackinger S., Prins B., Mamakou V., Zengini E., Marouli E., Brčić L., Serafetinidis I., Lamnissou K., Kontaxakis V., Dedoussis G., Gonidakis F., Thanopoulou A., Tentolouris N., Tsezou A., Zeggini E. (2018)
      The epidemiologic link between schizophrenia (SCZ) and type 2 diabetes (T2D) remains poorly understood. Here, we investigate the presence and extent of a shared genetic background between SCZ and T2D using genome-wide ...

    • Extending the clinical phenotype associated with biallelic NTHL1 germline mutations 

      Fostira F., Kontopodis E., Apostolou P., Fragkaki M., Androulakis N., Yannoukakos D., Konstantopoulou I., Saloustros E. (2018)
      [No abstract available]

    • A familial concurrence of schizophrenia and Gaucher's disease 

      Mouzas, O. D.; Siomos, K. E.; Angelopoulos, N. V. (2007)
      Background: Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. Methods: ...

    • The fate of BRCA1-related germline mutations in triple-negative breast tumors 

      Kotoula V., Fostira F., Papadopoulou K., Apostolou P., Tsolaki E., Lazaridis G., Manoussou K., Zagouri F., Pectasides D., Vlachos I., Tikas I., Lakis S., Konstantopoulou I., Pentheroudakis G., Gogas H., Papakostas P., Christodoulou C., Bafaloukos D., Razis E., Karavasilis V., Bamias C., Yannoukakos D., Fountzilas G. (2017)
      The preservation of pathogenic BRCA1/2 germline mutations in tumor tissues is usually not questioned, while it remains unknown whether these interact with somatic genotypes for patient outcome. Herein we compared germline ...

    • Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis 

      Müller T., Alberts R., De Vries E.M.G., Goode E.C., Jiang X., Sampaziotis F., Rombouts K., Böttcher K., Folseraas T., Weismüller T.J., Mason A.L., Wang W., Alexander G., Alvaro D., Bergquist A., Björkström N.K., Beuers U., Björnsson E., Boberg K.M., Bowlus C.L., Bragazzi M.C., Carbone M., Chazouillères O., Cheung A., Dalekos G., Eaton J., Eksteen B., Ellinghaus D., Färkkilä M., Festen E.A.M., Floreani A., Franceschet I., Gotthardt D.N., Hirschfield G.M., Hoek B.V., Holm K., Hohenester S., Hov J.R., Imhann F., Invernizzi P., Juran B.D., Lenzen H., Lieb W., Liu J.Z., Marschall H.-U., Marzioni M., Melum E., Milkiewicz P., Pares A., Rupp C., Rust C., Sandford R.N., Schramm C., Schreiber S., Schrumpf E., Silverberg M.S., Srivastava B., Sterneck M., Teufel A., Vallier L., Verheij J., Vila A.V., De Vries B., Zachou K., Chapman R.W., Manns M.P., Pinzani M., Rushbrook S.M., Lazaridis K.N., Franke A., Anderson C.A., Karlsen T.H., Ponsioen C.Y., Weersma R.K. (2018)
      Objective Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic ...

    • Genetic determinants of C1 inhibitor deficiency angioedema age of onset 

      Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)
      Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...

    • Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: A case control study 

      Pavlidou E., Daponte A., Egea R., Dardiotis E., Hadjigeorgiou G.M., Barbadilla A., Agorastos T. (2016)
      Background: The aim of the study was to evaluate the association of two SNPs of EVER1/2 genes' region (rs2290907, rs16970849) and the FAS-670 polymorphism with the susceptibility to precancerous lesions and cervical cancer ...

    • Genetic profiling and volatile oil content of oregano genotypes from greece 

      Papaioannou C., Stefanakis M.K., Batargias C., Kilias G., Anastasopoulos E., Katerinopoulos H.E., Papasotiropoulos V. (2020)
      Several oregano genotypes belonging to Origanum vulgare subsp. hirtum (Link) Ietsw., O. onites L., and O. majorana L., Lamiaceae, from Greece, were genetically and chemically studied. Genetic analysis with microsatellite ...

    • Genetic spatiotemporal anatomy of plasmodium vivax malaria episodes in Greece, 2009–2013 

      Spanakos G., Snounou G., Pervanidou D., Alifrangis M., Rosanas-Urgell A., Baka A., Tseroni M., Vakali A., Vassalou E., Patsoula E., Zeller H., Van Bortel W., Hadjichristodoulou C., MALWEST Project (2018)
      An influx of immigrants is contributing to the reemergence of Plasmodium vivax malaria in Greece; 1 persistent focus of transmission is in Laconia, Pelopónnese. We genotyped archived blood samples from a substantial ...

    • Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece 

      Tsiloulis A.N., Zacharaki F., Kotoula M.G., Chatzoulis D.Z., Morrison M.A., Mayne K., Dardiotis E., Stefanidis I.L., Almpanidou P., DeAngelis M.M., Tsironi E.E. (2016)
      [No abstract available]

    • Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions 

      Dardiotis E., Siokas V., Garas A., Paraskevaidis E., Kyrgiou M., Xiromerisiou G., Deligeoroglou E., Galazios G., Kontomanolis E.N., Spandidos D.A., Tsatsakis A., Daponte A. (2018)
      Human papillomavirus (HPV) infection alone is not sufficient to explain the development of cervical cancer. Genetic variants have been linked to the development of precancerous lesions and cervical cancer. In this study, ...

    • Genetics of COVID-19 and myalgic encephalomyelitis/chronic fatigue syndrome: a systematic review 

      Tziastoudi M., Cholevas C., Stefanidis I., Theoharides T.C. (2022)
      COVID-19 and ME/CFS present with some similar symptoms, especially physical and mental fatigue. In order to understand the basis of these similarities and the possibility of underlying common genetic components, we performed ...

    • 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 ...

    • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22 

      Kerkhof, H. J. M.; Lories, R. J.; Meulenbelt, I.; Jonsdottir, I.; Valdes, A. M.; Arp, P.; Ingvarsson, T.; Jhamai, M.; Jonsson, H.; Stolk, L.; Thorleifsson, G.; Zhai, G.; Zhang, F.; Zhu, Y.; Van Der Breggen, R.; Carr, A.; Doherty, M.; Doherty, S.; Felson, D. T.; Gonzalez, A.; Halldorsson, B. V.; Hart, D. J.; Hauksson, V. B.; Hofman, A.; Ioannidis, J. P. A.; Kloppenburg, M.; Lane, N. E.; Loughlin, J.; Luyten, F. P.; Nevitt, M. C.; Parimi, N.; Pols, H. A. P.; Rivadeneira, F.; Slagboom, E. P.; Styrḱarsd́ottir, U.; Tsezou, A.; Van De Putte, T.; Zmuda, J.; Spector, T. D.; Stefansson, K.; Uitterlinden, A. G.; Van Meurs, J. B. J. (2010)
      Objective. To identify novel genes involved in osteoarthritis (OA), by means of a genome-wide association study. Methods. We tested 500,510 single-nucleotide polymorphisms (SNPs) in 1,341 Dutch Caucasian OA cases and 3,496 ...

    • Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study 

      Manali E.D., Kannengiesser C., Borie R., Ba I., Bouros D., Markopoulou A., Antoniou K., Kolilekas L., Papaioannou A.I., Tzilas V., Tzouvelekis A., Daniil Z., Fouka E., Papakosta D., Xyfteri A., Karakatsani A., Loukides S., Korbila I., Tomos I.P., Konstantinidis A.K., Gogali A., Steiropoulos P., Papanikolaou I.C., Bazaka C., Haritou A., Vassilakopoulos T., Maniati M., Kagouridis K., Markozannes E., Bouros E., Rampiadou C., Kounti G., Trachalaki A., Dimeas I., Karampitsakos T., Lyberopoulos P., Malamadakis N., Spyropoulou S., Revy P., Lainey E., Dieudé P., Rebah K., Ménard C., Oudin C., Masson C., Plessier A., Legendre M., Nathan N., Coulomb-L'hermine A., Clement A., Amselem S., Boileau C., Crestani B., Papiris S. (2022)
      Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide ...