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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Mahajan A, Sim X, Ng HJ, Manning A, Rivas MA, Highland HM, Locke AE, Grarup N, Im HK, Cingolani P, Flannick J, Fontanillas P, Fuchsberger C, Gaulton KJ, Teslovich TM, Rayner NW, Robertson NR, Beer NL, Rundle JK, Bork-Jensen J, Ladenvall C, Blancher C, Buck D, Buck G, Burtt NP, Gabriel S, Gjesing AP, Groves CJ, Hollensted M, Huyghe JR, Jackson AU, Jun G, Justesen JM, Mangino M, Murphy J, Neville M, Onofrio R, Small KS, Stringham HM, Syvänen AC, Trakalo J, Abecasis G, Bell GI, Blangero J, Cox NJ, Duggirala R, Hanis CL, Seielstad M, Wilson JG, Christensen C, Brandslund I, Rauramaa R, Surdulescu GL, Doney AS, Lannfelt L, Linneberg A, Isomaa B, Tuomi T, Jørgensen ME, Jørgensen T, Kuusisto J, Uusitupa M, Salomaa V, Spector TD, Morris AD, Palmer CN, Collins FS, Mohlke KL, Bergman RN, Ingelsson E, Lind L, Tuomilehto J, Hansen T, Watanabe RM, Prokopenko I, Dupuis J, Karpe F, Groop L, Laakso M, Pedersen O, Florez JC, Morris AP, Altshuler D, Meigs JB, Boehnke M, McCarthy MI, Lindgren CM, Gloyn AL; T2D-GENES consortium and GoT2D consortium. Mahajan A, et al. Among authors: stringham hm. PLoS Genet. 2015 Jan 27;11(1):e1004876. doi: 10.1371/journal.pgen.1004876. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25625282 Free PMC article.
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.
Watanabe RM, Ghosh S, Langefeld CD, Valle TT, Hauser ER, Magnuson VL, Mohlke KL, Silander K, Ally DS, Chines P, Blaschak-Harvan J, Douglas JA, Duren WL, Epstein MP, Fingerlin TE, Kaleta HS, Lange EM, Li C, McEachin RC, Stringham HM, Trager E, White PP, Balow J Jr, Birznieks G, Chang J, Eldridge W. Watanabe RM, et al. Among authors: stringham hm. Am J Hum Genet. 2000 Nov;67(5):1186-200. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11032784 Free PMC article.
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.
Silander K, Scott LJ, Valle TT, Mohlke KL, Stringham HM, Wiles KR, Duren WL, Doheny KF, Pugh EW, Chines P, Narisu N, White PP, Fingerlin TE, Jackson AU, Li C, Ghosh S, Magnuson VL, Colby K, Erdos MR, Hill JE, Hollstein P, Humphreys KM, Kasad RA, Lambert J, Lazaridis KN, Lin G, Morales-Mena A, Patzkowski K, Pfahl C, Porter R, Rha D, Segal L, Suh YD, Tovar J, Unni A, Welch C, Douglas JA, Epstein MP, Hauser ER, Hagopian W, Buchanan TA, Watanabe RM, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Silander K, et al. Among authors: stringham hm. Diabetes. 2004 Mar;53(3):821-9. doi: 10.2337/diabetes.53.3.821. Diabetes. 2004. PMID: 14988269
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns.
Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Watanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Riebow NL, Buchanan TA, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Boehnke M, Collins FS. Bonnycastle LL, et al. Among authors: stringham hm. Diabetes. 2006 Sep;55(9):2534-40. doi: 10.2337/db06-0178. Diabetes. 2006. PMID: 16936201 Free article.
158 results