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Tissue-specific alternative splicing of TCF7L2.
Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Usher N, Tong M, Sprau A, Swift A, Bonnycastle LL, Erdos MR, He Z, Saxena R, Harmon B, Kotova O, Hoffman EP, Altshuler D, Groop L, Boehnke M, Collins FS, Hall JL. Prokunina-Olsson L, et al. Among authors: collins fs. Hum Mol Genet. 2009 Oct 15;18(20):3795-804. doi: 10.1093/hmg/ddp321. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602480 Free PMC article.
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Scott LJ, et al. Among authors: collins fs. Science. 2007 Jun 1;316(5829):1341-5. doi: 10.1126/science.1142382. Epub 2007 Apr 26. Science. 2007. PMID: 17463248 Free PMC article.
A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.
Wood AR, Jonsson A, Jackson AU, Wang N, van Leewen N, Palmer ND, Kobes S, Deelen J, Boquete-Vilarino L, Paananen J, Stančáková A, Boomsma DI, de Geus EJC, Eekhoff EMW, Fritsche A, Kramer M, Nijpels G, Simonis-Bik A, van Haeften TW, Mahajan A, Boehnke M, Bergman RN, Tuomilehto J, Collins FS, Mohlke KL, Banasik K, Groves CJ, McCarthy MI; Diabetes Research on Patient Stratification (DIRECT); Pearson ER, Natali A, Mari A, Buchanan TA, Taylor KD, Xiang AH, Gjesing AP, Grarup N, Eiberg H, Pedersen O, Chen YD, Laakso M, Norris JM, Smith U, Wagenknecht LE, Baier L, Bowden DW, Hansen T, Walker M, Watanabe RM, 't Hart LM, Hanson RL, Frayling TM. Wood AR, et al. Among authors: collins fs. Diabetes. 2017 Aug;66(8):2296-2309. doi: 10.2337/db16-1452. Epub 2017 May 10. Diabetes. 2017. PMID: 28490609 Free PMC article.
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.
Claussnitzer M, Dankel SN, Klocke B, Grallert H, Glunk V, Berulava T, Lee H, Oskolkov N, Fadista J, Ehlers K, Wahl S, Hoffmann C, Qian K, Rönn T, Riess H, Müller-Nurasyid M, Bretschneider N, Schroeder T, Skurk T, Horsthemke B; DIAGRAM+Consortium; Spieler D, Klingenspor M, Seifert M, Kern MJ, Mejhert N, Dahlman I, Hansson O, Hauck SM, Blüher M, Arner P, Groop L, Illig T, Suhre K, Hsu YH, Mellgren G, Hauner H, Laumen H. Claussnitzer M, et al. Cell. 2014 Jan 16;156(1-2):343-58. doi: 10.1016/j.cell.2013.10.058. Cell. 2014. PMID: 24439387 Free PMC article.
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.
Wang Z, Emmerich A, Pillon NJ, Moore T, Hemerich D, Cornelis MC, Mazzaferro E, Broos S, Ahluwalia TS, Bartz TM, Bentley AR, Bielak LF, Chong M, Chu AY, Berry D, Dorajoo R, Dueker ND, Kasbohm E, Feenstra B, Feitosa MF, Gieger C, Graff M, Hall LM, Haller T, Hartwig FP, Hillis DA, Huikari V, Heard-Costa N, Holzapfel C, Jackson AU, Johansson Å, Jørgensen AM, Kaakinen MA, Karlsson R, Kerr KF, Kim B, Koolhaas CM, Kutalik Z, Lagou V, Lind PA, Lorentzon M, Lyytikäinen LP, Mangino M, Metzendorf C, Monroe KR, Pacolet A, Pérusse L, Pool R, Richmond RC, Rivera NV, Robiou-du-Pont S, Schraut KE, Schulz CA, Stringham HM, Tanaka T, Teumer A, Turman C, van der Most PJ, Vanmunster M, van Rooij FJA, van Vliet-Ostaptchouk JV, Zhang X, Zhao JH, Zhao W, Balkhiyarova Z, Balslev-Harder MN, Baumeister SE, Beilby J, Blangero J, Boomsma DI, Brage S, Braund PS, Brody JA, Bruinenberg M, Ekelund U, Liu CT, Cole JW, Collins FS, Cupples LA, Esko T, Enroth S, Faul JD, Fernandez-Rhodes L, Fohner AE, Franco OH, Galesloot TE, Gordon SD, Grarup N, Hartman CA, Heiss G, Hui J, Illig T, Jago R, James A, Joshi PK, Jung T, Kähönen M, Kilpeläinen TO, Koh WP, Kolcic I, Kraft PP, Kuusisto J, Launer LJ, Li A, Linneberg… See abstract for full author list ➔ Wang Z, et al. Among authors: collins fs. Nat Genet. 2022 Sep;54(9):1332-1344. doi: 10.1038/s41588-022-01165-1. Epub 2022 Sep 7. Nat Genet. 2022. PMID: 36071172 Free PMC article.
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, Pers TH, Johnson AD, Ko YA, Fuchsberger C, Tayo B, Nalls M, Feitosa MF, Isaacs A, Dehghan A, d'Adamo P, Adeyemo A, Dieffenbach AK, Zonderman AB, Nolte IM, van der Most PJ, Wright AF, Shuldiner AR, Morrison AC, Hofman A, Smith AV, Dreisbach AW, Franke A, Uitterlinden AG, Metspalu A, Tonjes A, Lupo A, Robino A, Johansson Å, Demirkan A, Kollerits B, Freedman BI, Ponte B, Oostra BA, Paulweber B, Krämer BK, Mitchell BD, Buckley BM, Peralta CA, Hayward C, Helmer C, Rotimi CN, Shaffer CM, Müller C, Sala C, van Duijn CM, Saint-Pierre A, Ackermann D, Shriner D, Ruggiero D, Toniolo D, Lu Y, Cusi D, Czamara D, Ellinghaus D, Siscovick DS, Ruderfer D, Gieger C, Grallert H, Rochtchina E, Atkinson EJ, Holliday EG, Boerwinkle E, Salvi E, Bottinger EP, Murgia F, Rivadeneira F, Ernst F, Kronenberg F, Hu FB, Navis GJ, Curhan GC, Ehret GB, Homuth G, Coassin S, Thun GA, Pistis G, Gambaro G, Malerba G, Montgomery GW, Eiriksdottir G, Jacobs G, Li G, Wichmann HE, Campbell H, Schmidt H, Wallaschofski H, Völzke H, Brenner H, Kroemer HK, Kramer H, Lin H, Leach IM, Ford I,… See abstract for full author list ➔ Pattaro C, et al. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023. Nat Commun. 2016. PMID: 26831199 Free PMC article.
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