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Πλοήγηση ανά Θέμα "Haplotypes"

Αποτελέσματα 1-15 από 15

    • Association of anti-CCP positivity and carriage of TNFRII susceptibility variant with anti-TNF-α response in rheumatoid arthritis 

      Vasilopoulos, Y.; Bagiatis, V.; Stamatopoulou, D.; Zisopoulos, D.; Alexiou, I.; Sarafidou, T.; Settas, L.; Sakkas, L.; Mamuris, Z. (2011)
      Objective: To investigate the possible influence of tumour necrosis factoralpha (TNF), TNF receptor I (TNFRI) and TNF receptor II (TNFRII) gene polymorphisms on anti-TNF treatment responsiveness, stratified by autoantibody ...

    • BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects 

      Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)
      Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...

    • A case-control study on the risk factors for meningococcal disease among children in Greece 

      Hadjichristodoulou C., Mpalaouras G., Vasilopoulou V., Katsioulis A., Rachiotis G., Theodoridou K., Tzanakaki G., Syriopoulou V., Theodoridou M. (2016)
      Purpose: The aim of this study was to identify environmental or genetic risk factors that are associated with invasive meningococcal disease (IMD) in children in Greece. Methods: A case-control study was performed in 133 ...

    • Cerebral and non-cerebral coenurosis: on the genotypic and phenotypic diversity of Taenia multiceps 

      Christodoulopoulos G., Dinkel A., Romig T., Ebi D., Mackenstedt U., Loos-Frank B. (2016)
      We characterised the causative agents of cerebral and non-cerebral coenurosis in livestock by determining the mitochondrial genotypes and morphological phenotypes of 52 Taenia multiceps isolates from a wide geographical ...

    • Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach 

      Silveira, A. C.; Morrison, M. A.; Ji, F.; Xu, H.; Reinecke, J. B.; Adams, S. M.; Arneberg, T. M.; Janssian, M.; Lee, J. E.; Yuan, Y.; Schaumberg, D. A.; Kotoula, M. G.; Tsironi, E. E.; Tsiloulis, A. N.; Chatzoulis, D. Z.; Miller, J. W.; Kim, I. K.; Hageman, G. S.; Farrer, L. A.; Haider, N. B.; DeAngelis, M. M. (2010)
      To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). ...

    • Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype 

      Patrinos, G. P.; Samperi, P.; Nigro, L. I.; Kollia, P.; Schiliro, G.; Papadakis, M. N. (2005)
      There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at ...

    • Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients 

      Mitropoulos K., Papadima E.M., Xiromerisiou G., Balasopoulou A., Charalampidou K., Galani V., Zafeiri K.-V., Dardiotis E., Ralli S., Deretzi G., John A., Kydonopoulou K., Papadopoulou E., Di Pardo A., Akcimen F., Loizedda A., Dobriĉić V., Novaković I., Kostic V.S., Mizzi C., Peters B.A., Basak N., Orrù S., Kiskinis E., Cooper D.N., Gerou S., Drmanac R., Bartsakoulia M., Tsermpini E.-E., Hadjigeorgiou G.M., Ali B.R., Katsila T., Patrinos G.P. (2017)
      Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted ...

    • Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity 

      Hamzic S., Schärer D., Offer S.M., Meulendijks D., Nakas C., Diasio R.B., Fontana S., Wehrli M., Schürch S., Amstutz U., Largiadèr C.R. (2021)
      Aims: The aim of this study was to identify risk variants and haplotypes that impair dihydropyrimidine dehydrogenase (DPD) activity and are, therefore, candidate risk variants for severe toxicity to 5-fluorouracil (5-FU) ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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 ...

    • 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. ...

    • 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 ...