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KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium; O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS. Pearce LR, et al. Cell. 2013 Nov 7;155(4):765-77. doi: 10.1016/j.cell.2013.09.058. Cell. 2013. PMID: 24209692 Free PMC article.
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS. Lee YS, et al. Cell Metab. 2006 Feb;3(2):135-40. doi: 10.1016/j.cmet.2006.01.006. Cell Metab. 2006. PMID: 16459314 Free article.
Genetics of obesity.
O'Rahilly S, Farooqi IS. O'Rahilly S, et al. Philos Trans R Soc Lond B Biol Sci. 2006 Jul 29;361(1471):1095-105. doi: 10.1098/rstb.2006.1850. Philos Trans R Soc Lond B Biol Sci. 2006. PMID: 16815794 Free PMC article. Review.
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K. Agostini M, et al. Cell Metab. 2006 Oct;4(4):303-11. doi: 10.1016/j.cmet.2006.09.003. Cell Metab. 2006. PMID: 17011503 Free PMC article.
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Farooqi IS, et al. N Engl J Med. 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988. N Engl J Med. 2007. PMID: 17229951 Free PMC article.
553 results