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Πλοήγηση ανά Θέμα "polymorphism"

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    • The role of MTHFR gene in multiple myeloma 

      Zintzaras, E.; Giannouli, S.; Rodopoulou, P.; Voulgarelis, M. (2008)
      Case-control studies investigating associations between multiple myeloma (MM) and the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) have provided controversial results. In an attempt to ...

    • Single nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility 

      Markandona, O.; Dafopoulos, K.; Anifandis, G.; Messini, C. I.; Tsezou, A.; Georgoulias, P.; Tzavella, A.; Messinis, I. E. (2015)

    • Synopsis and Synthesis of Candidate-Gene Association Studies in Chronic Lymphocytic Leukemia: The CUMAGAS-CLL Information System 

      Zintzaras, E.; Kitsios, G. D. (2009)
      A comprehensive and systematic assessment of the current status of candidate-gene association studies for chronic lymphocytic leukemia (CLL) was conducted. Data from 989 candidate-gene association studies (1992-2009) ...

    • TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A 

      Brown A.-L., Wilkins O.G., Keuss M.J., Hill S.E., Zanovello M., Lee W.C., Bampton A., Lee F.C.Y., Masino L., Qi Y.A., Bryce-Smith S., Gatt A., Hallegger M., Fagegaltier D., Phatnani H., Phatnani H., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Shneider N.A., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., MacGowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Butovsky O., Dubnau J., Nath A., Bowser R., Harms M., Aronica E., Poss M., Phillips-Cremins J., Crary J., Atassi N., Lange D.J., Adams D.J., Stefanis L., Gotkine M., Baloh R.H., Babu S., Raj T., Paganoni S., Shalem O., Smith C., Zhang B., Harris B., Broce I., Drory V., Ravits J., McMillan C., Menon V., Wu L., Altschuler S., Lerner Y., Sattler R., Van Keuren-Jensen K., Rozenblatt-Rosen O., Lindblad-Toh K., Nicholson K., Gregersen P., Lee J.-H., Kokos S., Muljo S., Newcombe J., Gustavsson E.K., Seddighi S., Reyes J.F., Coon S.L., Ramos D., Schiavo G., Fisher E.M.C., Raj T., Secrier M., Lashley T., Ule J., Buratti E., Humphrey J., Ward M.E., Fratta P., NYGC ALS Consortium (2022)
      Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding ...

    • Trends in meta-analysis of genetic association studies 

      Zintzaras, E.; Lau, J. (2008)
      The number of published genetic association studies (GASs) is increasing tremendously due to the availability of mapped single-nucleotide polymorphisms (SNPs) and advances in genotyping technologies. A search in HuGENet ...

    • Variants of the Arachidonate 5-Lipoxygenase-Activating Protein (ALOX5AP) Gene and Risk of Stroke: A HuGE Gene-Disease Association Review and Meta-Analysis 

      Zintzaras, E.; Rodopoulou, P.; Sakellaridis, N. (2009)
      Variants of the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene have been implicated as a risk factor for stroke. However, genetic association studies that have examined the association between ALOX5AP gene ...

    • XbaI GLUT1 gene polymorphism and the risk of type 2 diabetes with nephropathy 

      Stefanidis, I.; Kytoudis, K.; Papathanasiou, A. A.; Zaragotas, D.; Melistas, L.; Kitsios, G. D.; Yiannakouris, N.; Zintzaras, E. (2009)
      Altered expression of the facilitated glucose transporter GLUT1 affects pathways implicated in the pathogenesis of diabetic nephropathy. There is indication that variation of GLUT1 gene (SLC2A1) contributes to development ...