Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

par 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
Publié dans Thyroid (2017)

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

par 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
Publié dans J Clin Invest (2016)

Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor α1 and the α2 variant protein

par Moran, Carla, Agostini, Maura, Visser, W. Edward, Schoenmakers, Erik, Schoenmakers, Nadia, Offiah, Amaka C., Poole, Ken, Rajanayagam, Odelia, Lyons, Greta, Halsall, David, Gurnell, Mark, Chrysis, Dionisios, Efthymiadou, Alexandra, Buchanan, Charles, Aylwin, Simon, Chatterjee, Krishna
Publié dans Lancet Diabetes Endocrinol (2014)

A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

par 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
Publié 2014

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

par van Gucht, Anja L. M., Meima, Marcel E., Moran, Carla, Agostini, Maura, Tylki-Szymanska, Anna, Krajewska, Malgorzata, Walasek, Chrzanowska, Krystyna, Efthymiadou, Alexandra, Chrysis, Dionisios, Demir, Korcan, Visser, W. Edward, Visser, Theo J., Chatterjee, Krishna, van Dijk, Thamar B., Peeters, Robin P.
Publié dans J Clin Endocrinol Metab (2017)

A pharmacogenetic approach to the treatment of patients with PPARG mutations

par Agostini, Maura, Schoenmakers, Erik, Beig, Junaid, Fairall, Louise, Szatmari, Istvan, Rajanayagam, Odelia, Muskett, Fred, Adams, Claire, Marais, A. David, O’Rahilly, Stephen, Semple, Robert K., Nagy, Laszlo, Majithia, Amit R., Schwabe, John, Blom, Dirk J., Murphy, Rinki, Chatterjee, Krishna, Savage, David B.
Publié dans Diabetes (2018)

Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance

par Agostini, Maura, Schoenmakers, Erik, Mitchell, Catherine, Szatmari, Istvan, Savage, David, Smith, Aaron, Rajanayagam, Odelia, Semple, Robert, Luan, Jian'an, Bath, Louise, Zalin, Anthony, Labib, Mourad, Kumar, Sudhesh, Simpson, Helen, Blom, Dirk, Marais, David, Schwabe, John, Barroso, Inês, Trembath, Richard, Wareham, Nicholas, Nagy, Laszlo, Gurnell, Mark, O'Rahilly, Stephen, Chatterjee, Krishna
Publié 2006

Prospective functional classification of all possible missense variants in PPARG

par Majithia, Amit R., Tsuda, Ben, Agostini, Maura, Gnanapradeepan, Keerthana, Rice, Robert, Peloso, Gina, Patel, Kashyap A., Zhang, Xiaolan, Broekema, Marjoleine F., Patterson, Nick, Duby, Marc, Sharpe, Ted, Kalkhoven, Eric, Rosen, Evan D., Barroso, Inês, Ellard, Sian, Kathiresan, Sekar, O’Rahilly, Stephen, Chatterjee, Krishna, Florez, Jose C., Mikkelsen, Tarjei, Savage, David B., Altshuler, David
Publié dans Nat Genet (2016)

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

par 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, Lu, Jun, Castanet, Mireille, Clemons, Nick, Groeneveld, Matthijs, Castets, Perrine, Karbaschi, Mahsa, Aitken, Sri, Dixon, Adrian, Williams, Jane, Campi, Irene, Blount, Margaret, Burton, Hannah, Muntoni, Francesco, O’Donovan, Dominic, Dean, Andrew, Warren, Anne, Brierley, Charlotte, Baguley, David, Guicheney, Pascale, Fitzgerald, Rebecca, Coles, Alasdair, Gaston, Hill, Todd, Pamela, Holmgren, Arne, Khanna, Kum Kum, Cooke, Marcus, Semple, Robert, Halsall, David, Wareham, Nicholas, Schwabe, John, Grasso, Lucia, Beck-Peccoz, Paolo, Ogunko, Arthur, Dattani, Mehul, Gurnell, Mark, Chatterjee, Krishna
Publié 2010