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Page 1
Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.
Agostini M, Gurnell M, Savage DB, Wood EM, Smith AG, Rajanayagam O, Garnes KT, Levinson SH, Xu HE, Schwabe JW, Willson TM, O'Rahilly S, Chatterjee VK. Agostini M, et al. Among authors: o rahilly s, rajanayagam o. Endocrinology. 2004 Apr;145(4):1527-38. doi: 10.1210/en.2003-1271. Epub 2003 Dec 4. Endocrinology. 2004. PMID: 14657011
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: rajanayagam o. 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: rajanayagam o. 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.
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: o rahilly s, rajanayagam o. Nat Genet. 2002 Aug;31(4):379-84. doi: 10.1038/ng926. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118251
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: o rahilly s, rajanayagam o. Cell Metab. 2006 Oct;4(4):303-11. doi: 10.1016/j.cmet.2006.09.003. Cell Metab. 2006. PMID: 17011503 Free PMC article.
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
Moran C, Schoenmakers N, Agostini M, Schoenmakers E, Offiah A, Kydd A, Kahaly G, Mohr-Kahaly S, Rajanayagam O, Lyons G, Wareham N, Halsall D, Dattani M, Hughes S, Gurnell M, Park SM, Chatterjee K. Moran C, et al. Among authors: rajanayagam o. J Clin Endocrinol Metab. 2013 Nov;98(11):4254-61. doi: 10.1210/jc.2013-2215. Epub 2013 Aug 12. J Clin Endocrinol Metab. 2013. PMID: 23940126
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K. Schoenmakers N, et al. Among authors: rajanayagam o. J Clin Endocrinol Metab. 2014 Jul;99(7):E1381-6. doi: 10.1210/jc.2013-4077. Epub 2014 Mar 19. J Clin Endocrinol Metab. 2014. PMID: 24646103 Free PMC article.
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB. Agostini M, et al. Among authors: rajanayagam o. Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5. Diabetes. 2018. PMID: 29622583 Free PMC article.
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: rajanayagam o. EMBO J. 1998 Aug 17;17(16):4760-70. doi: 10.1093/emboj/17.16.4760. EMBO J. 1998. PMID: 9707435 Free PMC article.
A mutation in the thyroid hormone receptor alpha gene.
Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K. Bochukova E, et al. Among authors: rajanayagam o. N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14. N Engl J Med. 2012. PMID: 22168587 Free article.
24 results