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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.
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.
Kavvoura FK, Raimondo A, Thanabalasingham G, Barrett A, Webster AL, Shears D, Mann NP, Ellard S, Gloyn AL, Owen KR. Kavvoura FK, et al. Among authors: barrett a. J Clin Endocrinol Metab. 2014 Jun;99(6):E1067-71. doi: 10.1210/jc.2013-3641. Epub 2014 Feb 27. J Clin Endocrinol Metab. 2014. PMID: 24606082 Free PMC article.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium. Raimondo A, et al. Among authors: barrett a. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11. Hum Mol Genet. 2014. PMID: 25015100 Free PMC article.
Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes.
Rosengren AH, Braun M, Mahdi T, Andersson SA, Travers ME, Shigeto M, Zhang E, Almgren P, Ladenvall C, Axelsson AS, Edlund A, Pedersen MG, Jonsson A, Ramracheya R, Tang Y, Walker JN, Barrett A, Johnson PR, Lyssenko V, McCarthy MI, Groop L, Salehi A, Gloyn AL, Renström E, Rorsman P, Eliasson L. Rosengren AH, et al. Among authors: barrett a. Diabetes. 2012 Jul;61(7):1726-33. doi: 10.2337/db11-1516. Epub 2012 Apr 9. Diabetes. 2012. PMID: 22492527 Free PMC article.
2,405 results