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FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium. Hwang JL, et al. Among authors: glaser b. Pediatr Diabetes. 2018 May;19(3):388-392. doi: 10.1111/pedi.12612. Epub 2017 Nov 29. Pediatr Diabetes. 2018. PMID: 29193502 Free PMC article.
A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.
Love-Gregory LD, Wasson J, Ma J, Jin CH, Glaser B, Suarez BK, Permutt MA. Love-Gregory LD, et al. Among authors: glaser b. Diabetes. 2004 Apr;53(4):1134-40. doi: 10.2337/diabetes.53.4.1134. Diabetes. 2004. PMID: 15047632
Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells.
Tornovsky-Babeay S, Dadon D, Ziv O, Tzipilevich E, Kadosh T, Schyr-Ben Haroush R, Hija A, Stolovich-Rain M, Furth-Lavi J, Granot Z, Porat S, Philipson LH, Herold KC, Bhatti TR, Stanley C, Ashcroft FM, In't Veld P, Saada A, Magnuson MA, Glaser B, Dor Y. Tornovsky-Babeay S, et al. Among authors: glaser b. Cell Metab. 2014 Jan 7;19(1):109-21. doi: 10.1016/j.cmet.2013.11.007. Epub 2013 Dec 12. Cell Metab. 2014. PMID: 24332968 Free article.
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsén T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa B, Johansson S, Jørgensen T, Jørgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segrè AV, Skärstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njølstad PR, Pedersen O; Go-T2D Consortium; T2D-GENES Consortium; Groop L, Cox DR, Stefansson K, Altshuler D. Flannick J, et al. Among authors: glaser b. Nat Genet. 2014 Apr;46(4):357-63. doi: 10.1038/ng.2915. Epub 2014 Mar 2. Nat Genet. 2014. PMID: 24584071 Free PMC article.
636 results