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Πλοήγηση ανά Θέμα "gene locus"

Αποτελέσματα 21-37 από 37

    • Irradiation induced inversions suppress recombination between the M locus and morphological markers in Aedes aegypti 

      Augustinos A.A., Misbah-ul-Haq M., Carvalho D.O., de la Fuente L.D., Koskinioti P., Bourtzis K. (2020)
      Background: Aedes aegypti is the primary vector of arthropod-borne viruses and one of the most widespread and invasive mosquito species. Due to the lack of efficient specific drugs or vaccination strategies, vector population ...

    • Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis 

      Siokas V., Aloizou A.-M., Liampas I., Bakirtzis C., Nasios G., Paterakis K., Sgantzos M., Bogdanos D.P., Spandidos D.A., Tsatsakis A., Mitsias P.D., Dardiotis E. (2022)
      Amyotrophic lateral sclerosis (AL S) is a progressive neurodegenerative disease. Through a genome-wide association study (GWAS), the Sec1 family domain-containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged ...

    • 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, ...

    • Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations 

      Meulenbelt, I.; Chapman, K.; Dieguez-Gonzalez, R.; Shi, D.; Tsezou, A.; Dai, J.; Malizos, K. N.; Kloppenburg, M.; Carr, A.; Nakajima, M.; van der Breggen, R.; Lakenberg, N.; Gomez-Reino, J. J.; Jiang, Q.; Ikegawa, S.; Gonzalez, A.; Loughlin, J.; Slagboom, E. P. (2009)
      Recently, through a genome wide association study in Japanese knee osteoarthritis (OA) cases, a previously unknown gene, DVWA, was identified. The non-synonymous single nucleotide polymorphism (SNP) rs7639618 was subsequently ...

    • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

      Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M. (2015)
      Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic ...

    • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

      Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
      Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...

    • Loss of heterozygosity in DNA mismatch repair genes in human atherosclerotic plaques 

      Flouris, G. A.; Arvanitis, D. A.; Parissis, J. T.; Arvanitis, D. L.; Spandidos, D. A. (2001)
      To detect the incidence of loss of heterozygosity (LOH) in DNA mismatch repair genes (MMR) occurring in atherosclerosis, fifty human autopsy cases of atherosclerosis were examined for LOH using 19 microsatellite markers, ...

    • MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease 

      Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)
      Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...

    • Meta-analysis and bioinformatics detection of susceptibility genes in diabetic nephropathy 

      Tziastoudi M., Cholevas C., Theoharides T.C., Stefanidis I. (2022)
      The latest meta-analysis of genome-wide linkage studies (GWLS) identified nine cytogenetic locations suggestive of a linkage with diabetic nephropathy (DN) due to type 1 diabetes mellitus (T1DM) and seven locations due to ...

    • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 

      Evangelou, E.; Valdes, A. M.; Kerkhof, H. J. M.; Styrkarsdottir, U.; Zhu, Y.; Meulenbelt, I.; Lories, R. J.; Karassa, F. B.; Tylzanowski, P.; Bos, S. D.; Rayner, N. W.; Southam, L.; Zhai, G.; Elliott, K. S.; Hunt, S. E.; Blackburn, H.; Potter, S. C.; Day-Williams, A. G.; Beazley, C.; Akune, T.; Arden, N. K.; Carr, A.; Chapman, K.; Cupples, L. A.; Dai, J.; Deloukas, P.; Doherty, M.; Doherty, S.; Engstrom, G.; Gonzalez, A.; Halldorsson, B. V.; Hammond, C. L.; Hart, D. J.; Helgadottir, H.; Hofman, A.; Ikegawa, S.; Ingvarsson, T.; Jiang, Q.; Jonsson, H.; Kaprio, J.; Kawaguchi, H.; Kisand, K.; Kloppenburg, M.; Kujala, U. M.; Lohmander, L. S.; Loughlin, J.; Luyten, F. P.; Mabuchi, A.; McCaskie, A.; Nakajima, M.; Nilsson, P. M.; Nishida, N.; Ollier, W. E. R.; Panoutsopoulou, K.; Van De Putte, T.; Ralston, S. H.; Rivadeneira, F.; Saarela, J.; Schulte-Merker, S.; Shi, D.; Slagboom, P. E.; Sudo, A.; Tamm, A.; Thorleifsson, G.; Thorsteinsdottir, U.; Tsezou, A.; Wallis, G. A.; Wilkinson, J. M.; Yoshimura, N.; Zeggini, E.; Zhang, F.; Jonsdottir, I.; Uitterlinden, A. G.; Felson, D. T.; Van Meurs, J. B.; Stefansson, K.; Ioannidis, J. P. A.; Spector, T. D. (2011)
      Objectives: Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including ...

    • Molecular typing of Brucella melitensis endemic strains and differentiation from the vaccine strain Rev-1 

      Noutsios, G. T.; Papi, R. M.; Ekateriniadou, L. V.; Minas, A.; Kyriakidis, D. A. (2012)
      In the present study forty-four Greek endemic strains of Br. melitensis and three reference strains were genotyped by Multi locus Variable Number Tandem Repeat (ML-VNTR) analysis based on an eight-base pair tandem repeat ...

    • Replication of PTPRC as genetic biomarker of response to TNF inhibitors in patients with rheumatoid arthritis 

      Ferreiro-Iglesias A., Montes A., Perez-Pampin E., Cañete J.D., Raya E., Magro-Checa C., Vasilopoulos Y., Sarafidou T., Caliz R., Ferrer M.A., Joven B., Carreira P., Balsa A., Pascual-Salcedo D., Blanco F.J., Moreno-Ramos M.J., Fernández-Nebro A., Ordóñez M.C., Alegre-Sancho J.J., Narváez J., Navarro-Sarabia F., Moreira V., Valor L., García-Portales R., Marquez A., Martin J., Gómez-Reino J.J., Gonzalez A. (2016)
      Genetic biomarkers could be useful for orienting treatment of patients with rheumatoid arthritis (RA), but none has been convincingly validated yet. Putative biomarkers include 14 single nucleotide polymorphisms that have ...

    • Replication study of GWAS risk loci in Greek multiple sclerosis patients 

      Hadjigeorgiou G.M., Kountra P.-M., Koutsis G., Tsimourtou V., Siokas V., Dardioti M., Rikos D., Marogianni C., Aloizou A.-M., Karadima G., Ralli S., Grigoriadis N., Bogdanos D., Panas M., Dardiotis E. (2019)
      Objectives: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS). ...

    • Seven new loci associated with age-related macular degeneration 

      Fritsche, L. G.; Chen, W.; Schu, M.; Yaspan, B. L.; Yu, Y.; Thorleifsson, G.; Zack, D. J.; Arakawa, S.; Cipriani, V.; Ripke, S.; Igo, R. P.; Buitendijk, G. H. S.; Sim, X.; Weeks, D. E.; Guymer, R. H.; Merriam, J. E.; Francis, P. J.; Hannum, G.; Agarwal, A.; Armbrecht, A. M.; Audo, I.; Aung, T.; Barile, G. R.; Benchaboune, M.; Bird, A. C.; Bishop, P. N.; Branham, K. E.; Brooks, M.; Brucker, A. J.; Cade, W. H.; Cain, M. S.; Campochiaro, P. A.; Chan, C. C.; Cheng, C. Y.; Chew, E. Y.; Chin, K. A.; Chowers, I.; Clayton, D. G.; Cojocaru, R.; Conley, Y. P.; Cornes, B. K.; Daly, M. J.; Dhillon, B.; Edwards, A. O.; Evangelou, E.; Fagerness, J.; Ferreyra, H. A.; Friedman, J. S.; Geirsdottir, A.; George, R. J.; Gieger, C.; Gupta, N.; Hagstrom, S. A.; Harding, S. P.; Haritoglou, C.; Heckenlively, J. R.; Holz, F. G.; Hughes, G.; Ioannidis, J. P. A.; Ishibashi, T.; Joseph, P.; Jun, G.; Kamatani, Y.; Katsanis, N.; N Keilhauer, C.; Khan, J. C.; Kim, I. K.; Kiyohara, Y.; Klein, B. E. K.; Klein, R.; Kovach, J. L.; Kozak, I.; Lee, C. J.; Lee, K. E.; Lichtner, P.; Lotery, A. J.; Meitinger, T.; Mitchell, P.; Mohand-Saïd, S.; Moore, A. T.; Morgan, D. J.; Morrison, M. A.; Myers, C. E.; Naj, A. C.; Nakamura, Y.; Okada, Y.; Orlin, A.; Ortube, M. C.; Othman, M. I.; Pappas, C.; Park, K. H.; Pauer, G. J. T.; Peachey, N. S.; Poch, O.; Priya, R. R.; Reynolds, R.; Richardson, A. J.; Ripp, R.; Rudolph, G.; Ryu, E.; Sahel, J. A.; Schaumberg, D. A.; Scholl, H. P. N.; Schwartz, S. G.; Scott, W. K.; Shahid, H.; Sigurdsson, H.; Silvestri, G.; Sivakumaran, T. A.; Smith, R. T.; Sobrin, L.; Souied, E. H.; Stambolian, D. E.; Stefansson, H.; Sturgill-Short, G. M.; Takahashi, A.; Tosakulwong, N.; Truitt, B. J.; Tsironi, E. E.; Uitterlinden, A. G.; Van Duijn, C. M.; Vijaya, L.; Vingerling, J. R.; Vithana, E. N.; Webster, A. R.; Wichmann, H. E.; Winkler, T. W.; Wong, T. Y.; Wright, A. F.; Zelenika, D.; Zhang, M.; Zhao, L.; Zhang, K.; Klein, M. L.; Hageman, G. S.; Lathrop, G. M.; Stefansson, K.; Allikmets, R.; Baird, P. N.; Gorin, M. B.; Wang, J. J.; Klaver, C. C. W.; Seddon, J. M.; Pericak-Vance, M. A.; Iyengar, S. K.; Yates, J. R. W.; Swaroop, A.; Weber, B. H. F.; Kubo, M.; Deangelis, M. M.; Léveillard, T.; Thorsteinsdottir, U.; Haines, J. L.; Farrer, L. A.; Heid, I. M.; Abecasis, G. R. (2013)
      Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association ...

    • Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 

      Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)
      Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...

    • Understanding covid-19 epidemiology and implications for control: The experience from a greek semi-closed community 

      Kotsiou O.S., Papagiannis D., Fradelos E.C., Perlepe G., Miziou A., Siachpazidou D.S., Gourgoulianis K.I. (2021)
      Background: We aimed to estimate the SARS-CoV-2 antigen and antibody seroprevalence in one of the worst-affected by the pandemic semi-closed communities in Greece, Deskati, and evaluate the sociodemographic and clinical ...

    • VDR Gene Polymorphisms and Cluster Headache Susceptibility: Case–Control Study in a Southeastern European Caucasian Population 

      Papasavva M., Vikelis M., Siokas V., Katsarou M.-S., Dermitzakis E., Raptis A., Dardiotis E., Drakoulis N. (2022)
      Cluster headache (CH) is a severe primary headache disorder with a genetic component, as indicated by family and twin studies. Diurnal and seasonal rhythmicity are key features of the disease and might be related to vitamin ...