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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
Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α.
Romartinez-Alonso B, Agostini M, Jones H, McLellan J, Sood DE, Tomkinson N, Marelli F, Gentile I, Visser WE, Schoenmakers E, Fairall L, Privalsky M, Moran C, Persani L, Chatterjee K, Schwabe JWR. Romartinez-Alonso B, et al. Among authors: agostini m. Mol Cell Biol. 2022 Feb 17;42(2):e0036321. doi: 10.1128/MCB.00363-21. Epub 2021 Dec 6. Mol Cell Biol. 2022. PMID: 34871063 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: agostini m. 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.
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.
Cartwright D, O'Shea P, Rajanayagam O, Agostini M, Barker P, Moran C, Macchia E, Pinchera A, John R, Agha A, Ross HA, Chatterjee VK, Halsall DJ. Cartwright D, et al. Among authors: agostini m. Clin Chem. 2009 May;55(5):1044-6. doi: 10.1373/clinchem.2008.120303. Epub 2009 Mar 12. Clin Chem. 2009. PMID: 19282355 No abstract available.
771 results