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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: dattani m. 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.
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: dattani 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.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: dattani mt. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 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: dattani 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
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. Nicholas AK, et al. Among authors: dattani m. J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. doi: 10.1210/jc.2016-1879. Epub 2016 Aug 15. J Clin Endocrinol Metab. 2016. PMID: 27525530 Free PMC article.
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Moran C, Habeb AM, Kahaly GJ, Kampmann C, Hughes M, Marek J, Rajanayagam O, Kuczynski A, Vargha-Khadem F, Morsy M, Offiah AC, Poole K, Ward K, Lyons G, Halsall D, Berman L, Watson L, Baguley D, Mollon J, Moore AT, Holder GE, Dattani M, Chatterjee K. Moran C, et al. Among authors: dattani m. J Endocr Soc. 2017 Aug 8;1(9):1203-1212. doi: 10.1210/js.2017-00204. eCollection 2017 Sep 1. J Endocr Soc. 2017. PMID: 29264576 Free PMC article.
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Roche EF, McGowan A, Koulouri O, Turgeon MO, Nicholas AK, Heffernan E, El-Khairi R, Abid N, Lyons G, Halsall D, Bonomi M, Persani L, Dattani MT, Gurnell M, Bernard DJ, Schoenmakers N. Roche EF, et al. Among authors: dattani mt. Clin Endocrinol (Oxf). 2018 Dec;89(6):813-823. doi: 10.1111/cen.13827. Epub 2018 Oct 1. Clin Endocrinol (Oxf). 2018. PMID: 30086211 Free PMC article.
285 results