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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. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
Genetic disorders of thyroid development, hormone biosynthesis and signalling.
Moran C, Schoenmakers N, Visser WE, Schoenmakers E, Agostini M, Chatterjee K. Moran C, et al. Among authors: schoenmakers e. Clin Endocrinol (Oxf). 2022 Oct;97(4):502-514. doi: 10.1111/cen.14817. Epub 2022 Sep 5. Clin Endocrinol (Oxf). 2022. PMID: 35999191 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: schoenmakers e. 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: schoenmakers n. 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.
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK. Moran C, et al. Among authors: schoenmakers n, schoenmakers e. Lancet Diabetes Endocrinol. 2014 Aug;2(8):619-26. doi: 10.1016/S2213-8587(14)70111-1. Epub 2014 Jun 23. Lancet Diabetes Endocrinol. 2014. PMID: 24969835 Free PMC article.
147 results