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Auflistung Nach Schlagwort "haplotype"

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    • Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 

      Elbaz, A.; Ross, O. A.; Ioannidis, J. P. A.; Soto-Ortolaza, A. I.; Moisan, F.; Aasly, J.; Annesi, G.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Destée, A.; Ferrarese, C.; Ferraris, A.; Gibson, J. M.; Gispert, S.; Hadjigeorgiou, G. M.; Jasinska-Myga, B.; Klein, C.; Krüger, R.; Lambert, J. C.; Lohmann, K.; Van De Loo, S.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Stefanis, L.; Uitti, R. J.; Valente, E. M.; Vilariño-Güell, C.; Wirdefeldt, K.; Wszolek, Z. K.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J. (2011)
      Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...

    • Islands and hybrid zones: Combining the knowledge from "natural Laboratories" to explain phylogeographic patterns of the European brown hare 06 Biological Sciences 0604 Genetics 

      Giannoulis T., Plageras D., Stamatis C., Chatzivagia E., Tsipourlianos A., Birtsas P., Billinis C., Suchentrunk F., Mamuris Z. (2019)
      Background: The aim of the study was to use hybrid populations as well as island populations of the European brown hare (Lepus europaeus) to explore the effect of evolutionary events, such as the post-deglaciation ...

    • Multiple hit infection and autoimmunity: The dysbiotic microbiota-ACPA connection in rheumatoid arthritis 

      Sakkas L.I., Bogdanos D.P. (2018)
      Purpose of review This review highlights the most recent data obtained in this field and provides clues toward the better understanding of the close interplay between microbiota and host, leading to autoimmune diseases. ...

    • Multivariate methods for meta-analysis of genetic association studies 

      Dimou N.L., Pantavou K.G., Braliou G.G., Bagos P.G. (2018)
      Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a ...

    • An NOS3 haplotype is protective against hypertension in a caucasian population 

      Kitsios, G. D.; Zintzaras, E. (2010)
      The endothelial nitric oxide synthase gene (NOS3) has been implicated in the development of hypertension, although the specific role of variants and haplotypes has not been clarified. In this study, the association of three ...

    • Pharmacogenetic analysis of TNF, TNFRSF1A, and TNFRSF1B gene polymorphisms and prediction of response to anti-TNF therapy in psoriasis patients in the greek population 

      Vasilopoulos, Y.; Manolika, M.; Zafiriou, E.; Sarafidou, T.; Bagiatis, V.; Krüger-Krasagaki, S.; Tosca, A.; Patsatsi, A.; Sotiriadis, D.; Mamuris, Z.; Roussaki-Schulze, A. (2012)
      Background: Although biologic therapies have revolutionized the treatment of psoriasis, patients exhibit a substantial heterogeneous response that could be due to complex genetic heterogeneity. Objective: The aim of this ...

    • Phylogeography of roe deer (Capreolus capreolus) populations: The effects of historical genetic subdivisions and recent nonequilibrium dynamics 

      Randi, E.; Alves, P. C.; Carranza, J.; Milosevic-Zlatanovi, S.; Sfougaris, A.; Mucci, N. (2004)
      We sequenced 704 mitochondrial DNA (mtDNA) control-region nucleotides and genotyped 11 autosomal microsatellites (STR) in 617 European roe deer (Capreolus capreolus) samples, aiming to infer the species' phylogeographical ...

    • Plasminogen Activator Inhibitor Type-1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetes Mellitus Type 2 and Diabetic Retinopathy 

      Siokas V., Dardiotis E., Sokolakis T., Kotoula M., Tachmitzi S.V., Chatzoulis D.Z., Almpanidou P., Stefanidis I., Hadjigeorgiou G.M., Tsironi E.E. (2017)
      Background: There is accumulating evidence for genetic susceptibility to the development of diabetic retinopathy (DR). The role of plasminogen activator inhibitor-1 (PAI-1) in DR risk remains controversial. Objective: The ...

    • Positive selection and precipitation effects on the mitochondrial NADH dehydrogenase subunit 6 gene in brown hares (Lepus europaeus) under a phylogeographic perspective 

      Stefanović M., Djan M., Veličković N., Beuković D., Lavadinović V., Zhelev C.D., Demirbaş Y., Paule L., Gedeon C.I., Mamuris Z., Posautz A., Beiglböck C., Kübber-Heiss A., Suchentrunk F. (2019)
      Previous studies in hares and jackrabbits have indicated that positive selection has shaped the genetic diversity of mitochondrial genes involved in oxidative phosphorylation, which may affect cellular energy production ...

    • Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health 

      Dinas P.C., Nintou E., Vliora M., Pravednikova A.E., Sakellariou P., Witkowicz A., Kachaev Z.M., Kerchev V.V., Larina S.N., Cotton J., Kowalska A., Gkiata P., Bargiota A., Khachatryan Z.A., Hovhannisyan A.A., Antonosyan M.A., Margaryan S., Partyka A., Bogdanski P., Szulinska M., Kregielska-Narozna M., Czepczyński R., Ruchała M., Tomkiewicz A., Yepiskoposyan L., Karabon L., Shidlovskii Y., Metsios G.S., Flouris A.D. (2022)
      Contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested ...

    • Primary biliary cirrhosis: Family stories 

      Smyk, D.; Cholongitas, E.; Kriese, S.; Rigopoulou, E. I.; Bogdanos, D. P. (2011)
      Primary biliary cirrhosis (PBC) is a chronic immune-mediated cholestatic liver disease of unknown aetiology which affects mostly women in middle age. Familial PBC is when PBC affects more than one member of the same family, ...

    • The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 

      Heckman, M. G.; Elbaz, A.; Soto-Ortolaza, A. I.; Serie, D. J.; Aasly, J. O.; Annesi, G.; Auburger, G.; Bacon, J. A.; Boczarska-Jedynak, M.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Dardiotis, E.; Destée, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gispert, S.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lin, C. H.; Lohmann, K.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Opala, G.; Park, S. S.; Petrucci, S.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Vassilatis, D. K.; Vilariño-Güell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J.; Ross, O. A. (2014)
      The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the ...

    • Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer 

      Strakova A., Nicholls T.J., Baez-Ortega A., Ní Leathlobhair M., Sampson A.T., Hughes K., Bolton I.A.G., Gori K., Wang J., Airikkala-Otter I., Allen J.L., Allum K.M., Arnold C.L., Bansse-Issa L., Bhutia T.N., Bisson J.L., Blank K., Briceño C., Castillo Domracheva A., Corrigan A.M., Cran H.R., Crawford J.T., Cutter S.M., Davis E., de Castro K.F., De Nardi A.B., de Vos A.P., Delgadillo Keenan L., Donelan E.M., Espinoza Huerta A.R., Faramade I.A., Fazil M., Fotopoulou E., Fruean S.N., Gallardo-Arrieta F., Glebova O., Gouletsou P.G., Häfelin Manrique R.F., Henriques J.J.G.P., Horta R.S., Ignatenko N., Kane Y., King C., Koenig D., Krupa A., Kruzeniski S.J., Lanza-Perea M., Lazyan M., Lopez Quintana A.M., Losfelt T., Marino G., Martínez Castañeda S., Martínez-López M.F., Masuruli B.M., Meyer M., Migneco E.J., Nakanwagi B., Neal K.B., Neunzig W., Nixon S.J., Ortega-Pacheco A., Pedraza-Ordoñez F., Peleteiro M.C., Polak K., Pye R.J., Ramirez-Ante J.C., Reece J.F., Rojas Gutierrez J., Sadia H., Schmeling S.K., Shamanova O., Sherlock A.G., Steenland-Smit A.E., Svitich A., Tapia Martínez L.J., Thoya Ngoka I., Torres C.G., Tudor E.M., van der Wel M.G., Vițălaru B.A., Vural S.A., Walkinton O., Wehrle-Martinez A.S., Widdowson S.A.E., Zvarich I., Chinnery P.F., Falkenberg M., Gustafsson C.M., Murchison E.P. (2020)
      Autonomous replication and segregation of mitochondrial DNA (mtDNA) creates the potential for evolutionary conflict driven by emergence of haplotypes under positive selection for ‘selfish’ traits, such as replicative ...

    • SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy 

      Siokas V., Fotiadou A., Dardiotis E., Kotoula M.G., Tachmitzi S.V., Chatzoulis D.Z., Zintzaras E., Stefanidis I., Tsironi E.E. (2019)
      Backround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose ...

    • SORL1 mutation in a Greek family with Parkinson's disease and dementia 

      Xiromerisiou G., Bourinaris T., Houlden H., Lewis P.A., Senkevich K., Hammer M., Federoff M., Khan A., Spanaki C., Hadjigeorgiou G.M., Bonstanjopoulou S., Fidani L., Ermolaev A., Gan-Or Z., Singleton A., Vandrovcova J., Hardy J. (2021)
      Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ...

    • Thelazia callipaeda in mustelids from Romania with the European badger, Meles meles, as a new host for this parasite 

      Ionicǎ A.M., Deak G., D'Amico G., Stan G.F., Chieamera G.B., Constantinescu I.C., Adam C., Lefkaditis M., Gherman C.M., Mihalca A.D. (2019)
      Background: Thelazia callipaeda (Spirurida, Thelaziidae) is a vector-borne zoonotic eye worm with a broad host spectrum. In Europe, it is an emerging threat, having greatly expanded its geographical distribution during the ...

    • 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 ...