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Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO. Albuquerque AS, et al. Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008. Clin Exp Immunol. 2023. PMID: 36722341 Free PMC article. No abstract available.
Association of intercellular adhesion molecule-1 gene with type 1 diabetes.
Nejentsev S, Guja C, McCormack R, Cooper J, Howson JM, Nutland S, Rance H, Walker N, Undlien D, Ronningen KS, Tuomilehto-Wolf E, Tuomilehto J, Ionescu-Tirgoviste C, Gale EA, Bingley PJ, Gillespie KM, Savage DA, Carson DJ, Patterson CC, Maxwell AP, Todd JA. Nejentsev S, et al. Lancet. 2003 Nov 22;362(9397):1723-4. doi: 10.1016/S0140-6736(03)14847-7. Lancet. 2003. PMID: 14643123
Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.
Nejentsev S, Smink LJ, Smyth D, Bailey R, Lowe CE, Payne F, Masters J, Godfrey L, Lam A, Burren O, Stevens H, Nutland S, Walker NM, Smith A, Twells R, Barratt BJ, Wright C, French L, Chen Y, Deloukas P, Rogers J, Dunham I, Todd JA. Nejentsev S, et al. BMC Genet. 2007 May 17;8:24. doi: 10.1186/1471-2156-8-24. BMC Genet. 2007. PMID: 17509149 Free PMC article.
Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene.
Nejentsev S, Godfrey L, Snook H, Rance H, Nutland S, Walker NM, Lam AC, Guja C, Ionescu-Tirgoviste C, Undlien DE, Rønningen KS, Tuomilehto-Wolf E, Tuomilehto J, Newport MJ, Clayton DG, Todd JA. Nejentsev S, et al. Hum Mol Genet. 2004 Aug 1;13(15):1633-9. doi: 10.1093/hmg/ddh169. Epub 2004 Jun 2. Hum Mol Genet. 2004. PMID: 15175274
Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes.
Nejentsev S, Cooper JD, Godfrey L, Howson JM, Rance H, Nutland S, Walker NM, Guja C, Ionescu-Tirgovişte C, Savage DA, Undlien DE, Rønningen KS, Tuomilehto-Wolf E, Tuomilehto J, Gillespie KM, Ring SM, Strachan DP, Widmer B, Dunger D, Todd JA. Nejentsev S, et al. Diabetes. 2004 Oct;53(10):2709-12. doi: 10.2337/diabetes.53.10.2709. Diabetes. 2004. PMID: 15448105
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tîrgovişte C; Genetics of Type 1 Diabetes in Finland; Simmonds MJ, Heward JM, Gough SC; Wellcome Trust Case Control Consortium; Dunger DB, Wicker LS, Clayton DG. Todd JA, et al. Among authors: nejentsev s. Nat Genet. 2007 Jul;39(7):857-64. doi: 10.1038/ng2068. Epub 2007 Jun 6. Nat Genet. 2007. PMID: 17554260 Free PMC article.
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