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Page 1
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K. Schoenmakers E, et al. Among authors: chatterjee k. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
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: chatterjee k. 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.
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: chatterjee k. 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
Pitfalls in the measurement and interpretation of thyroid function tests.
Koulouri O, Moran C, Halsall D, Chatterjee K, Gurnell M. Koulouri O, et al. Among authors: chatterjee k. Best Pract Res Clin Endocrinol Metab. 2013 Dec;27(6):745-62. doi: 10.1016/j.beem.2013.10.003. Epub 2013 Oct 17. Best Pract Res Clin Endocrinol Metab. 2013. PMID: 24275187 Free PMC article. Review.
Resistance to thyroid hormone due to defective thyroid receptor alpha.
Moran C, Chatterjee K. Moran C, et al. Among authors: chatterjee k. Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):647-57. doi: 10.1016/j.beem.2015.07.007. Epub 2015 Jul 30. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26303090 Free PMC article. Review.
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.
Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K. Schoenmakers E, et al. Among authors: chatterjee k. J Clin Invest. 2016 Mar 1;126(3):992-6. doi: 10.1172/JCI84747. Epub 2016 Feb 8. J Clin Invest. 2016. PMID: 26854926 Free PMC article.
1,458 results