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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. Among authors: mitchell c. Cell Metab. 2006 Oct;4(4):303-11. doi: 10.1016/j.cmet.2006.09.003. Cell Metab. 2006. PMID: 17011503 Free PMC article.
Mitochondrial dysfunction in patients with primary congenital insulin resistance.
Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O'Rahilly S, Semple RK, Savage DB. Sleigh A, et al. Among authors: mitchell c. J Clin Invest. 2011 Jun;121(6):2457-61. doi: 10.1172/JCI46405. Epub 2011 May 9. J Clin Invest. 2011. PMID: 21555852 Free PMC article.
Elevated plasma adiponectin in humans with genetically defective insulin receptors.
Semple RK, Soos MA, Luan J, Mitchell CS, Wilson JC, Gurnell M, Cochran EK, Gorden P, Chatterjee VK, Wareham NJ, O'Rahilly S. Semple RK, et al. Among authors: mitchell cs. J Clin Endocrinol Metab. 2006 Aug;91(8):3219-23. doi: 10.1210/jc.2006-0166. Epub 2006 May 16. J Clin Endocrinol Metab. 2006. PMID: 16705075
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. Among authors: mitchell c. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.
Mitchell CS, Savage DB, Dufour S, Schoenmakers N, Murgatroyd P, Befroy D, Halsall D, Northcott S, Raymond-Barker P, Curran S, Henning E, Keogh J, Owen P, Lazarus J, Rothman DL, Farooqi IS, Shulman GI, Chatterjee K, Petersen KF. Mitchell CS, et al. J Clin Invest. 2010 Apr;120(4):1345-54. doi: 10.1172/JCI38793. Epub 2010 Mar 8. J Clin Invest. 2010. PMID: 20237409 Free PMC article.
4,070 results