Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Odelia, Rajanayagam"'
Autor:
Irene Campi, Krishna Chatterjee, Odelia Rajanayagam, Laura Fugazzola, Francesco Ferraù, Maura Agostini, Beatriz Romartinez-Alonso, Federica Spagnolo, Massimiliano Andreasi, Tiziana de Filippis, Federica Marelli, Ilaria Gentile, Giuditta Rurale, Luca Persani, Salvatore Cannavò
Publikováno v:
European Thyroid Journal. 10:533-541
Introduction: Resistance to thyroid hormone β (RTHβ) is an inherited syndrome caused by dominant negative variants in the THRB gene (NM_000461.5). The clinical picture of RTHβ is variable, and patients harboring the same variant may display differ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c426440f783857f3368682ffa081eed
https://doi.org/10.1159/000519748
https://doi.org/10.1159/000519748
Autor:
Carla Moran, Odelia Rajanayagam, Krishna Chatterjee, Christoph Seger, Louise Fairall, Kevin Taylor, Mark Gurnell, Susan Oddy, Christopher Strey, Anne McGowan, Greta Lyons, John W.R. Schwabe, Keith Burling, David Halsall
Publikováno v:
Thyroid
A 23-year-old man and his grandmother with hyperthyroxinemia and hypercortisolemia were heterozygous for an ALB mutation (p. Arg218Pro), known to cause familial dysalbuminemic hyperthyroxinemia (FDH). However, serum-free cortisol levels in these indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ddf4d7eba76f425bc8247cd1732ec4
Autor:
Laura Watson, Abdelhadi Habeb, Krishna Chatterjee, Lol Berman, John D. Mollon, Adam Kuczynski, Amaka C. Offiah, Mofeed Morsy, Anthony T. Moore, Carla Moran, Christoph Kampmann, Jan Marek, David M. Baguley, Mehul T. Dattani, David Halsall, Kate A Ward, Kenneth E. S. Poole, Odelia Rajanayagam, Graham E. Holder, Greta Lyons, Faraneh Vargha-Khadem, Marina Hughes, George J. Kahaly
Publikováno v:
Journal of the Endocrine Society, vol 1, iss 9
Journal of the Endocrine Society
Journal of the Endocrine Society
Resistance to thyroid hormone β (RTHβ) due to homozygous THRB defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3585bed89a5f9b65cff1e41b76dc78d4
https://escholarship.org/uc/item/7t3354xt
https://escholarship.org/uc/item/7t3354xt
Autor:
Nicholas J. Wareham, Mark Gurnell, Nadia Schoenmakers, Mehul T. Dattani, David Halsall, Krishna Chatterjee, Greta Lyons, Soo-Mi Park, Anna Kydd, Erik Schoenmakers, Susan Mohr-Kahaly, Odelia Rajanayagam, Maura Agostini, George J. Kahaly, Carla Moran, Stephen Hughes, Amaka C. Offiah
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 98:4254-4261
The first human cases (female, age 6 y; father and daughter, ages 47 and 11 y, respectively) with growth retardation/short stature, skeletal dysplasia, constipation, and defective thyroid receptor α (TRα) have been recently described.A 45-year-old,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26d9db8f0a98e1577b79e845163aa64
https://doi.org/10.1210/jc.2013-2215
https://doi.org/10.1210/jc.2013-2215
Autor:
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offish, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18d1c377664a0416f7969bb0082efec1
https://doi.org/10.1530/endoabs.44.p241
https://doi.org/10.1530/endoabs.44.p241
Autor:
Odelia Rajanayagam, Nadia Schoenmakers, Bradley A. Carlson, Erik Schoenmakers, Rachel Peat, Francesco Muntoni, Maura Agostini, Evelien F. Gevers, Pascale Guicheney, Ryuta Tobe, Greta Lyons, Krishna Chatterjee, Carla Moran, Sadaf Farooqi, Dolph L. Hatfield, Elena G. Bochukova
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
International audience; Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b564f713cffd43e17bc6acb51e4ba5
https://hal.sorbonne-universite.fr/hal-01295150
https://hal.sorbonne-universite.fr/hal-01295150
Autor:
Maura Agostini, Stephen O'Rahilly, Timothy M. Willson, David B. Savage, H. Eric Xu, Keith T. Garnes, John W.R. Schwabe, Odelia Rajanayagam, Aaron G. Smith, Mark Gurnell, V. Krishna K. Chatterjee, Emily M. Wood, Sidney H. Levinson
Publikováno v:
Endocrinology. 145:1527-1538
Loss-of-function mutations in the ligand-binding domain of human peroxisome proliferator-activated receptor gamma (PPARgamma) are associated with a novel syndrome characterized by partial lipodystrophy and severe insulin resistance. Here we have furt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1aed25fcc6d153b5dae014ce5fa847
https://doi.org/10.1210/en.2003-1271
https://doi.org/10.1210/en.2003-1271
Autor:
David B. Savage, Gudrun Ihrke, Maria A. Soos, E. Louise Thomas, K. Meeran, Inês Barroso, Antonio Vidal-Puig, Aline Meirhaeghe, Maura Agostini, Jian'an Luan, Odelia Rajanayagam, Jimmy D. Bell, Stephen O'Rahilly, Dirk Berger, Richard J. Ross, Anne-Helen Harding, Alan J. Schafer, Mark Gurnell, Nicholas J. Wareham, V. Krishna K. Chatterjee, Stella George
Publikováno v:
Nature Genetics. 31:379-384
Impaired insulin action is a key feature of type 2 diabetes and is also found, to a more extreme degree, in familial syndromes of insulin resistance. Although inherited susceptibility to insulin resistance may involve the interplay of several genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb20cdedc514b094248d5ad5a1d3f9b4
https://doi.org/10.1038/ng926
https://doi.org/10.1038/ng926
Autor:
Maura Agostini, David Halsall, Amaka C. Offiah, Charles R. Buchanan, Alexandra Efthymiadou, Krishna K Chatterjee, Greta Lyons, Erik Schoenmakers, Nadia Schoenmakers, W. Edward Visser, Simon Aylwin, Dionisios Chrysis, Mark Gurnell, Carla Moran, Odelia Rajanayagam, Kenneth E. S. Poole
Publikováno v:
The Lancet Diabetes & Endocrinology, 2(8), 619-626. Elsevier
Background\ud The thyroid hormone receptor α gene (THRA) transcript is alternatively spliced to generate either thyroid hormone receptor (TR)α1 or a non-hormone-binding variant protein, TRα2, the function of which is unknown. Here, we describe the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12855ea13849da6c38f0a1dce56a4d4
https://eprints.whiterose.ac.uk/131822/7/1-s2.0-S2213858714701111-main.pdf
https://eprints.whiterose.ac.uk/131822/7/1-s2.0-S2213858714701111-main.pdf
Autor:
Aldo Pinchera, Enrico Macchia, A. van de Wiel, P. M. J. Zelissen, John W.R. Schwabe, Rory J. Clifton-Bligh, F. van der Horst, Mark Gurnell, Maura Agostini, T. Wang, Odelia Rajanayagam, V. K. K. Chatterjee
Publikováno v:
Endocrinology. 140:5901-5906
The syndrome of resistance to thyroid hormone is associated with diverse mutations in the ligand-binding domain of the thyroid hormone β receptor, localizing to three clusters around the hormone binding cavity. Here, we report three novel resistance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b233c8d0bf1fafb84d980913a6f1e88
https://doi.org/10.1210/endo.140.12.7203
https://doi.org/10.1210/endo.140.12.7203