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132 results

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Page 1
The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.
Huerta-Chagoya A, Schroeder P, Mandla R, Deutsch AJ, Zhu W, Petty L, Yi X, Cole JB, Udler MS, Dornbos P, Porneala B, DiCorpo D, Liu CT, Li JH, Szczerbiński L, Kaur V, Kim J, Lu Y, Martin A, Eizirik DL, Marchetti P, Marselli L, Chen L, Srinivasan S, Todd J, Flannick J, Gubitosi-Klug R, Levitsky L, Shah R, Kelsey M, Burke B, Dabelea DM, Divers J, Marcovina S, Stalbow L, Loos RJF, Darst BF, Kooperberg C, Raffield LM, Haiman C, Sun Q, McCormick JB, Fisher-Hoch SP, Ordoñez ML, Meigs J, Baier LJ, González-Villalpando C, González-Villalpando ME, Orozco L, García-García L, Moreno-Estrada A; Mexican Biobank; Aguilar-Salinas CA, Tusié T, Dupuis J, Ng MCY, Manning A, Highland HM, Cnop M, Hanson R, Below J, Florez JC, Leong A, Mercader JM. Huerta-Chagoya A, et al. Among authors: below j. Diabetologia. 2023 Jul;66(7):1273-1288. doi: 10.1007/s00125-023-05912-9. Epub 2023 May 6. Diabetologia. 2023. PMID: 37148359 Free PMC article.
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG, Ng D, Ruppert S, Turner C, Beer NL, Swift AJ, Morken MA, Below JE, Blech I; NISC Comparative Sequencing Program; Mullikin JC, McCarthy MI, Biesecker LG, Gloyn AL, Collins FS. Rees MG, et al. Among authors: below je. J Clin Invest. 2012 Jan;122(1):205-17. doi: 10.1172/JCI46425. Epub 2011 Dec 19. J Clin Invest. 2012. PMID: 22182842 Free PMC article.
Germline BAP1 mutations predispose to malignant mesothelioma.
Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M. Testa JR, et al. Among authors: below je. Nat Genet. 2011 Aug 28;43(10):1022-5. doi: 10.1038/ng.912. Nat Genet. 2011. PMID: 21874000 Free PMC article.
Factors that impact susceptibility to fiber-induced health effects.
Below JE, Cox NJ, Fukagawa NK, Hirvonen A, Testa JR. Below JE, et al. J Toxicol Environ Health B Crit Rev. 2011;14(1-4):246-66. doi: 10.1080/10937404.2011.556052. J Toxicol Environ Health B Crit Rev. 2011. PMID: 21534090 Free PMC article.
Insulin gene mutations as a cause of permanent neonatal diabetes.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Støy J, et al. Among authors: below je. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. doi: 10.1073/pnas.0707291104. Epub 2007 Sep 12. Proc Natl Acad Sci U S A. 2007. PMID: 17855560 Free PMC article.
Genome-wide meta-analysis for severe diabetic retinopathy.
Grassi MA, Tikhomirov A, Ramalingam S, Below JE, Cox NJ, Nicolae DL. Grassi MA, et al. Among authors: below je. Hum Mol Genet. 2011 Jun 15;20(12):2472-81. doi: 10.1093/hmg/ddr121. Epub 2011 Mar 26. Hum Mol Genet. 2011. PMID: 21441570 Free PMC article.
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.
Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM; MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium); Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group. Paterson AD, et al. Among authors: below je. Diabetes. 2010 Feb;59(2):539-49. doi: 10.2337/db09-0653. Epub 2009 Oct 29. Diabetes. 2010. PMID: 19875614 Free PMC article.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D. Majithia AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Proc Natl Acad Sci U S A. 2014. PMID: 25157153 Free PMC article.
132 results