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Retardation of post-natal development caused by a negatively acting thyroid hormone receptor a1.
Published in:
EMBO Journal, 2002, v. 21, n. 19, p. 5079, doi. 10.1093/emboj/cdf523
By:
- Tinnikov, Alexander;
- Nordstr&o7ml;m, Kristina;
- Thorén, Peter;
- Kindblom, Jenny M.;
- Malin, Stephen;
- Rozell, Björn;
- Adams, Maria;
- Rajanayagam, Odelia;
- Pettersson, Sven;
- Ohlsson, Claes;
- Chatterjee, Krishna;
- Vennström, Björn
Publication type:
Article
A role for helix 3 of the TRß ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone.
Published in:
EMBO Journal, 1998, v. 17, n. 16, p. 4760, doi. 10.1093/emboj/17.16.4760
By:
- Collingwood, Trevor N.;
- Wagner, Richard;
- Matthews, Clare H.;
- Clifton-Bligh, Rory J.;
- Gurnell, Mark;
- Rajanayagam, Odelia;
- Agostini, Maura;
- Fletterick, Robert J.;
- Beck-Peccoz, Paolo;
- Reinhardt, Walter;
- Binder, Gerhard;
- Ranke, Michael B.;
- Hermus, Ad;
- Hesch, Rolf D.;
- Lazarus, John;
- Newrick, Paul;
- Parfitt, Vernon;
- Raggatt, Peter;
- de Zegher, Francis;
- Chatterjee, V. Krishna K.
Publication type:
Article
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Published in:
2010
By:
- Schoenmakers, Erik;
- Agostini, Maura;
- Mitchell, Catherine;
- Schoenmakers, Nadia;
- Papp, Laura;
- Rajanayagam, Odelia;
- Padidela, Raja;
- Ceron-Gutierrez, Lourdes;
- Doffinger, Rainer;
- Prevosto, Claudia;
- Luan, Jian'an;
- Montano, Sergio;
- Jun Lu;
- Castanet, Mireille;
- Clemons, Nick;
- Groeneveld, Matthijs;
- Castets, Perrine;
- Karbaschi, Mahsa;
- Aitken, Sri;
- Dixon, Adrian
Publication type:
journal article
Digenic inheritance of severe insulin resistance in a human pedigree.
Published in:
Nature Genetics, 2002, v. 31, n. 4, p. 379, doi. 10.1038/ng926
By:
- Savage, David B.;
- Agostini, Maura;
- Barroso, Inês;
- Gurnell, Mark;
- Luan, Jian'an;
- Meirhaeghe, Aline;
- Harding, Anne-Helen;
- Ihrke, Gudrun;
- Rajanayagam, Odelia;
- Soos, Maria A.;
- George, Stella;
- Berger, Dirk;
- Thomas, E. Louise;
- Bell, Jimmy D.;
- Meeran, Karim;
- Ross, Richard J.;
- Vidal-Puig, Antonio;
- Wareham, Nicholas J.;
- O'Rahilly, Stephen;
- Chatterjee, V. Krishna K.
Publication type:
Article
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Published in:
2014
By:
- Schoenmakers, Nadia;
- Moran, Carla;
- Campi, Irene;
- Agostini, Maura;
- Bacon, Olivia;
- Rajanayagam, Odelia;
- Schwabe, John;
- Bradbury, Sonia;
- Barrett, Timothy;
- Geoghegan, Frank;
- Druce, Maralyn;
- Beck-Peccoz, Paolo;
- O'Toole, Angela;
- Clark, Penelope;
- Bignell, Michelle;
- Lyons, Greta;
- Halsall, David;
- Gurnell, Mark;
- Chatterjee, Krishna
Publication type:
journal article
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
Published in:
2013
By:
- Moran, Carla;
- Schoenmakers, Nadia;
- Agostini, Maura;
- Schoenmakers, Erik;
- Offiah, Amaka;
- Kydd, Anna;
- Kahaly, George;
- Mohr-Kahaly, Susan;
- Rajanayagam, Odelia;
- Lyons, Greta;
- Wareham, Nicholas;
- Halsall, David;
- Dattani, Mehul;
- Hughes, Stephen;
- Gurnell, Mark;
- Park, Soo-Mi;
- Chatterjee, Krishna
Publication type:
journal article
Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.
Published in:
Thyroid, 2020, v. 30, n. 11, p. 1681, doi. 10.1089/thy.2020.0315
By:
- Moran, Carla;
- Seger, Christoph;
- Taylor, Kevin;
- Oddy, Susan;
- Burling, Keith;
- Rajanayagam, Odelia;
- Fairall, Louise;
- McGowan, Anne;
- Lyons, Greta;
- Halsall, David;
- Gurnell, Mark;
- Schwabe, John;
- Chatterjee, Krishna;
- Strey, Christopher
Publication type:
Article
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Published in:
Thyroid, 2017, v. 27, n. 7, p. 973, doi. 10.1089/thy.2017.0157
By:
- Moran, Carla;
- Agostini, Maura;
- McGowan, Anne;
- Schoenmakers, Erik;
- Fairall, Louise;
- Lyons, Greta;
- Rajanayagam, Odelia;
- Watson, Laura;
- Offiah, Amaka;
- Barton, John;
- Price, Susan;
- Schwabe, John;
- Chatterjee, Krishna
Publication type:
Article
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.
Published in:
2016
By:
- Schoenmakers, Erik;
- Carlson, Bradley;
- Agostini, Maura;
- Moran, Carla;
- Rajanayagam, Odelia;
- Bochukova, Elena;
- Tobe, Ryuta;
- Peat, Rachel;
- Gevers, Evelien;
- Muntoni, Francesco;
- Guicheney, Pascale;
- Schoenmakers, Nadia;
- Farooqi, Sadaf;
- Lyons, Greta;
- Hatfield, Dolph;
- Chatterjee, Krishna
Publication type:
journal article
A Pharmacogenetic Approach to the Treatment of Patients With Mutations.
Published in:
2018
By:
- Agostini, Maura;
- Schoenmakers, Erik;
- Beig, Junaid;
- Fairall, Louise;
- Szatmari, Istvan;
- Rajanayagam, Odelia;
- Muskett, Frederick W.;
- Adams, Claire;
- Marais, A. David;
- O’Rahilly, Stephen;
- Semple, Robert K.;
- Nagy, Laszlo;
- Majithia, Amit R.;
- Schwabe, John W. R.;
- Blom, Dirk J.;
- Murphy, Rinki;
- Chatterjee, Krishna;
- Savage, David B.;
- O'Rahilly, Stephen
Publication type:
journal article

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