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Page 1
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: gurnell m. 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
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Wu X, Azizan EAB, Goodchild E, Garg S, Hagiyama M, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Kuan JL, Tiang Z, David A, Murakami M, Mein CA, Wozniak E, Zhao W, Marker A, Buss F, Saleeb RS, Salsbury J, Tezuka Y, Satoh F, Oki K, Udager AM, Cohen DL, Wachtel H, King PJ, Drake WM, Gurnell M, Ceral J, Ryska A, Mustangin M, Wong YP, Tan GC, Solar M, Reincke M, Rainey WE, Foo RS, Takaoka Y, Murray SA, Zennaro MC, Beuschlein F, Ito A, Brown MJ. Wu X, et al. Among authors: gurnell m. Nat Genet. 2023 Jun;55(6):1009-1021. doi: 10.1038/s41588-023-01403-0. Epub 2023 Jun 8. Nat Genet. 2023. PMID: 37291193 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: gurnell 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.
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: gurnell m. Nat Genet. 2002 Aug;31(4):379-84. doi: 10.1038/ng926. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118251
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: gurnell m. Diabetes. 2003 Apr;52(4):910-7. doi: 10.2337/diabetes.52.4.910. Diabetes. 2003. PMID: 12663460
182 results