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Fletta eftir efnisorði "Polymorphism, Genetic"

Fletta eftir efnisorði "Polymorphism, Genetic"

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    Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. 
    Jakubowska, A; Rozkrut, D; Antoniou, A; Hamann, U; Scott, R J; McGuffog, L; Healy, S; Sinilnikova, O M; Rennert, G; Lejbkowicz, F; Flugelman, A; Andrulis, I L; Glendon, G; Ozcelik, H; Thomassen, M; Paligo, M; Aretini, P; Kantala, J; Aroer, B; von Wachenfeldt, A; Liljegren, A; Loman, N; Herbst, K; Kristoffersson, U; Rosenquist, R; Karlsson, P; Stenmark-Askmalm, M; Melin, B; Nathanson, K L; Domchek, S M; Byrski, T; Huzarski, T; Gronwald, J; Menkiszak, J; Cybulski, C; Serrano, P; Osorio, A; Cajal, T R; Tsitlaidou, M; Benítez, J; Gilbert, M; Rookus, M; Aalfs, C M; Kluijt, I; Boessenkool-Pape, J L; Meijers-Heijboer, H E J; Oosterwijk, J C; van Asperen, C J; Blok, M J; Nelen, M R; van den Ouweland, A M W; Seynaeve, C; van der Luijt, R B; Devilee, P; Easton, D F; Peock, S; Frost, D; Platte, R; Ellis, S D; Fineberg, E; Evans, D G; Lalloo, F; Eeles, R; Jacobs, C; Adlard, J; Davidson, R; Eccles, D; Cole, T; Cook, J; Godwin, A; Bove, B; Stoppa-Lyonnet, D; Caux-Moncoutier, V; Belotti, M; Tirapo, C; Mazoyer, S; Barjhoux, L; Boutry-Kryza, N; Pujol, P; Coupier, I; Peyrat, J-P; Vennin, P; Muller, D; Fricker, J-P; Venat-Bouvet, L; Jóhannsson, Óskar Þór; Isaacs, C; Schmutzler, R; Wappenschmidt, B; Meindl, A; Arnold, N; Varon-Mateeva, R; Niederacher, D; Sutter, C; Deissler, H; Preisler-Adams, S; Simard, J; Soucy, P; Durocher, F; Chenevix-Trench, G; Beesley, J; Chen, X; Rebbeck, T; Couch, F; Wang, X; Lindor, N; Fredericksen, Z; Pankratz, V S; Peterlongo, P; Bonanni, B; Fortuzzi, S; Peissel, B; Szabo, C; Mai, P L; Loud, J T; Lubinski, J (2012-06-05)
    The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), ...
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    Functional dissection of inherited non-coding variation influencing multiple myeloma risk 
    Ajore, Ram; Niroula, Abhishek; Pertesi, Maroulio; Cafaro, Caterina; Thodberg, Malte; Went, Molly; Bao, Erik L.; Duran-Lozano, Laura; Lopez de Lapuente Portilla, Aitzkoa; Olafsdottir, Thorunn; Ugidos-Damboriena, Nerea; Magnusson, Olafur; Samur, Mehmet; Lareau, Caleb A.; Halldorsson, Gisli H.; Thorleifsson, Gudmar; Norddahl, Gudmundur L.; Gunnarsdottir, Kristbjorg; Försti, Asta; Goldschmidt, Hartmut; Hemminki, Kari; van Rhee, Frits; Kimber, Scott; Sperling, Adam S.; Kaiser, Martin; Anderson, Kenneth; Jonsdottir, Ingileif; Munshi, Nikhil; Rafnar, Thorunn; Waage, Anders; Weinhold, Niels; Thorsteinsdottir, Unnur; Sankaran, Vijay G.; Stefansson, Kari; Houlston, Richard; Nilsson, Björn (2022-01-10)
    Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression ...
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    A Genetic Polymorphism in CTLA-4 Is Associated with Overall Survival in Sunitinib-Treated Patients with Clear Cell Metastatic Renal Cell Carcinoma 
    Liu, Xiaoyan; Swen, Jesse J.; Diekstra, Meta H.M.; Boven, Epie; Castellano, Daniel; Gelderblom, Hans; Mathijssen, Ron H.J.; Vermeulen, Sita H.; Oosterwijk, Egbert; Junker, Kerstin; Roessler, Max; Alexiusdottir, Kristin; Sverrisdóttir, Ásgerður; Radu, Marius T.; Ambert, Valentin; Eisen, Tim; Warren, Anne; Rodríguez-Antona, Cristina; García-Donas, Jesus; Böhringer, Stefan; Koudijs, Karel K.M.; Kiemeney, Lambertus A.L.M.; Rini, Brian I.; Guchelaar, Henk-Jan (2018-05-15)
    Purpose: The survival of patients with clear cell metastatic renal cell carcinoma (cc-mRCC) has improved substantially since the introduction of tyrosine kinase inhibitors (TKI). With the fact that TKIs interact with immune responses, we investigated ...
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    Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect 
    Styrkársdóttir, Unnur; Stefánsdóttir, Lilja; Thorleifsson, Gudmar; Andri Stefánsson, Ólafur; Sævarsdóttir, Sædís; Lund, Sigrún Helga; Rafnar, Thorunn; Hoshijima, Kazuyuki; Novak, Kendra; Oreiro, Natividad; Rego-Perez, Ignacio; Hansen, Channing; Kazmers, Nikolas; Kiemeney, Lambertus A; Blanco, Francisco J; Barker, Tyler; Kloppenburg, Margreet; Jurynec, Michael J; Gudbjartsson, Daniel F; Jónsson, Helgi; Þorsteinsdóttir, Unnur; Stefánsson, Kári (2023-06)
    OBJECTIVES: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been associated with hand OA but none with EHOA. ...