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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.
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.
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: chatterjee k. 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.
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.
1,414 results