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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, Flannick J, Fuchsberger C, Gamazon ER, Gaulton KJ, Im HK, Teslovich TM, Blackwell TW, Bork-Jensen J, Burtt NP, Chen Y, Green T, Hartl C, Kang HM, Kumar A, Ladenvall C, Ma C, Moutsianas L, Pearson RD, Perry JRB, Rayner NW, Robertson NR, Scott LJ, van de Bunt M, Eriksson JG, Jula A, Koskinen S, Lehtimäki T, Palotie A, Raitakari OT, Jacobs SBR, Wessel J, Chu AY, Scott RA, Goodarzi MO, Blancher C, Buck G, Buck D, Chines PS, Gabriel S, Gjesing AP, Groves CJ, Hollensted M, Huyghe JR, Jackson AU, Jun G, Justesen JM, Mangino M, Murphy J, Neville M, Onofrio R, Small KS, Stringham HM, Trakalo J, Banks E, Carey J, Carneiro MO, DePristo M, Farjoun Y, Fennell T, Goldstein JI, Grant G, Hrabé de Angelis M, Maguire J, Neale BM, Poplin R, Purcell S, Schwarzmayr T, Shakir K, Smith JD, Strom TM, Wieland T, Lindstrom J, Brandslund I, Christensen C, Surdulescu GL, Lakka TA, Doney ASF, Nilsson P, Wareham NJ, Langenberg C, Varga TV, Franks PW, Rolandsson O, Rosengren AH, Farook VS, Thameem F, Puppala S, Kumar S, Lehman DM, Jenkinson CP, Curran JE,… See abstract for full author list ➔ Manning A, et al. Among authors: karpe f. Diabetes. 2017 Jul;66(7):2019-2032. doi: 10.2337/db16-1329. Epub 2017 Mar 24. Diabetes. 2017. PMID: 28341696 Free PMC article.
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.
Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VK, O'Rahilly S. Savage DB, et al. Among authors: karpe f. Diabetes. 2003 Apr;52(4):910-7. doi: 10.2337/diabetes.52.4.910. Diabetes. 2003. PMID: 12663460
Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma.
Risérus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VK, Frayn KN, O'Rahilly S, Karpe F. Risérus U, et al. Among authors: karpe f. Diabetes. 2005 May;54(5):1379-84. doi: 10.2337/diabetes.54.5.1379. Diabetes. 2005. PMID: 15855323 Clinical Trial.
Absence of relationship between MTTP haplotypes and longevity.
Neville MJ, Clarke R, Evans JG, Rubinsztein DC, Karpe F. Neville MJ, et al. Among authors: karpe f. J Gerontol A Biol Sci Med Sci. 2007 Feb;62(2):202-5. doi: 10.1093/gerona/62.2.202. J Gerontol A Biol Sci Med Sci. 2007. PMID: 17339647
A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.
Savage DB, Zhai L, Ravikumar B, Choi CS, Snaar JE, McGuire AC, Wou SE, Medina-Gomez G, Kim S, Bock CB, Segvich DM, Solanky B, Deelchand D, Vidal-Puig A, Wareham NJ, Shulman GI, Karpe F, Taylor R, Pederson BA, Roach PJ, O'Rahilly S, DePaoli-Roach AA. Savage DB, et al. Among authors: karpe f. PLoS Med. 2008 Jan 29;5(1):e27. doi: 10.1371/journal.pmed.0050027. PLoS Med. 2008. PMID: 18232732 Free PMC article.
Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome.
Barber TM, Bennett AJ, Groves CJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen AL, Elliott P, Lindgren CM, Freathy RM, Koch K, Ouwehand WH, Karpe F, Conway GS, Wass JA, Järvelin MR, Franks S, McCarthy MI. Barber TM, et al. Among authors: karpe f. Diabetologia. 2008 Jul;51(7):1153-8. doi: 10.1007/s00125-008-1028-6. Epub 2008 May 14. Diabetologia. 2008. PMID: 18478198
Fatty acid metabolism in patients with PPARgamma mutations.
Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O'Rahilly S, Chatterjee K, Frayn KN, Karpe F. Tan GD, et al. Among authors: karpe f. J Clin Endocrinol Metab. 2008 Nov;93(11):4462-70. doi: 10.1210/jc.2007-2356. Epub 2008 Aug 19. J Clin Endocrinol Metab. 2008. PMID: 18713822
358 results