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Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.
Ferreira RC, Freitag DF, Cutler AJ, Howson JM, Rainbow DB, Smyth DJ, Kaptoge S, Clarke P, Boreham C, Coulson RM, Pekalski ML, Chen WM, Onengut-Gumuscu S, Rich SS, Butterworth AS, Malarstig A, Danesh J, Todd JA. Ferreira RC, et al. PLoS Genet. 2013 Apr;9(4):e1003444. doi: 10.1371/journal.pgen.1003444. Epub 2013 Apr 4. PLoS Genet. 2013. PMID: 23593036 Free PMC article.
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Léveillard T; French AMD Investigators; Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR. Cipriani V, et al. Hum Mol Genet. 2012 Sep 15;21(18):4138-50. doi: 10.1093/hmg/dds225. Epub 2012 Jun 13. Hum Mol Genet. 2012. PMID: 22694956 Free PMC article.
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene.
Davison LJ, Wallace C, Cooper JD, Cope NF, Wilson NK, Smyth DJ, Howson JM, Saleh N, Al-Jeffery A, Angus KL, Stevens HE, Nutland S, Duley S, Coulson RM, Walker NM, Burren OS, Rice CM, Cambien F, Zeller T, Munzel T, Lackner K, Blakenberg S; Cardiogenics Consortium; Fraser P, Gottgens B, Todd JA, Attwood T, Belz S, Braund P, Cambien F, Cooper J, Crisp-Hihn A, Diemert P, Deloukas P, Foad N, Erdmann J, Goodall AH, Gracey J, Gray E, Williams RG, Heimerl S, Hengstenberg C, Jolley J, Krishnan U, Lloyd-Jones H, Lugauer I, Lundmark P, Maouche S, Moore JS, Muir D, Murray E, Nelson CP, Neudert J, Niblett D, O'Leary K, Ouwehand WH, Pollard H, Rankin A, Rice CM, Sager H, Samani NJ, Sambrook J, Schmitz G, Scholz M, Schroeder L, Schunkert H, Syvannen AC, Tennstedt S, Wallace C. Davison LJ, et al. Hum Mol Genet. 2012 Jan 15;21(2):322-33. doi: 10.1093/hmg/ddr468. Epub 2011 Oct 11. Hum Mol Genet. 2012. PMID: 21989056 Free PMC article.
61 results