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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL. Beer NL, et al. Among authors: barrett a. Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18. Diabetes Care. 2012. PMID: 22611063 Free PMC article.
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.
van de Bunt M, Manning Fox JE, Dai X, Barrett A, Grey C, Li L, Bennett AJ, Johnson PR, Rajotte RV, Gaulton KJ, Dermitzakis ET, MacDonald PE, McCarthy MI, Gloyn AL. van de Bunt M, et al. Among authors: barrett a. PLoS Genet. 2015 Dec 1;11(12):e1005694. doi: 10.1371/journal.pgen.1005694. eCollection 2015 Dec. PLoS Genet. 2015. PMID: 26624892 Free PMC article.
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells.
Thomsen SK, Raimondo A, Hastoy B, Sengupta S, Dai XQ, Bautista A, Censin J, Payne AJ, Umapathysivam MM, Spigelman AF, Barrett A, Groves CJ, Beer NL, Manning Fox JE, McCarthy MI, Clark A, Mahajan A, Rorsman P, MacDonald PE, Gloyn AL. Thomsen SK, et al. Among authors: barrett a. Nat Genet. 2018 Aug;50(8):1122-1131. doi: 10.1038/s41588-018-0173-1. Epub 2018 Jul 27. Nat Genet. 2018. PMID: 30054598 Free PMC article.
Extent, causes, and consequences of small RNA expression variation in human adipose tissue.
Parts L, Hedman ÅK, Keildson S, Knights AJ, Abreu-Goodger C, van de Bunt M, Guerra-Assunção JA, Bartonicek N, van Dongen S, Mägi R, Nisbet J, Barrett A, Rantalainen M, Nica AC, Quail MA, Small KS, Glass D, Enright AJ, Winn J; MuTHER Consortium; Deloukas P, Dermitzakis ET, McCarthy MI, Spector TD, Durbin R, Lindgren CM. Parts L, et al. Among authors: barrett a. PLoS Genet. 2012;8(5):e1002704. doi: 10.1371/journal.pgen.1002704. Epub 2012 May 10. PLoS Genet. 2012. PMID: 22589741 Free PMC article.
2,407 results