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Page 1
Digenic inheritance of severe insulin resistance in a human pedigree.
Savage DB, Agostini M, Barroso I, Gurnell M, Luan J, Meirhaeghe A, Harding AH, Ihrke G, Rajanayagam O, Soos MA, George S, Berger D, Thomas EL, Bell JD, Meeran K, Ross RJ, Vidal-Puig A, Wareham NJ, O'Rahilly S, Chatterjee VK, Schafer AJ. Savage DB, et al. Among authors: agostini m. Nat Genet. 2002 Aug;31(4):379-84. doi: 10.1038/ng926. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118251
A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone.
Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V, Raggatt P, de Zegher F, Chatterjee VK. Collingwood TN, et al. Among authors: agostini m. EMBO J. 1998 Aug 17;17(16):4760-70. doi: 10.1093/emboj/17.16.4760. EMBO J. 1998. PMID: 9707435 Free PMC article.
Three novel mutations at serine 314 in the thyroid hormone beta receptor differentially impair ligand binding in the syndrome of resistance to thyroid hormone.
Gurnell M, Rajanayagam O, Agostini M, Clifton-Bligh RJ, Wang T, Zelissen PM, van der Horst F, van de Wiel A, Macchia E, Pinchera A, Schwabe JW, Chatterjee VK. Gurnell M, et al. Among authors: agostini m. Endocrinology. 1999 Dec;140(12):5901-6. doi: 10.1210/endo.140.12.7203. Endocrinology. 1999. PMID: 10579356
A dominant-negative peroxisome proliferator-activated receptor gamma (PPARgamma) mutant is a constitutive repressor and inhibits PPARgamma-mediated adipogenesis.
Gurnell M, Wentworth JM, Agostini M, Adams M, Collingwood TN, Provenzano C, Browne PO, Rajanayagam O, Burris TP, Schwabe JW, Lazar MA, Chatterjee VK. Gurnell M, et al. Among authors: agostini m. J Biol Chem. 2000 Feb 25;275(8):5754-9. doi: 10.1074/jbc.275.8.5754. J Biol Chem. 2000. PMID: 10681562 Free 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: agostini m. Diabetes. 2003 Apr;52(4):910-7. doi: 10.2337/diabetes.52.4.910. Diabetes. 2003. PMID: 12663460
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.
766 results