Resultados de búsqueda - Erik Schoenmakers

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  1. 1
    Comparative analysis of the influence of the high-mobility group box 1 protein on DNA binding and transcriptional activation by the androgen, glucocorticoid, progesterone and mineralocorticoid receptors

    Comparative analysis of the influence of the high-mobility group box 1 protein on DNA binding and transcriptional activation by the androgen, glucocorticoid, progesterone and miner... por Guy Verrijdt, Annemie Haelens, Erik Schoenmakers, Wilfried Rombauts, Frank Claessens

    Publicado 2002
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  2. 2
    Differences in DNA Binding Characteristics of the Androgen and Glucocorticoid Receptors Can Determine Hormone-specific Responses

    Differences in DNA Binding Characteristics of the Androgen and Glucocorticoid Receptors Can Determine Hormone-specific Responses por Erik Schoenmakers, Guy Verrijdt, Ben Peeters, Guido Verhoeven, Wilfried Rombauts, Frank Claessens

    Publicado 2000
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  3. 3
    Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

    Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors por Marie Futter, H. Diekmann, Erik Schoenmakers, Omar Sadiq, Krishna Chatterjee, David C. Rubinsztein

    Publicado 2009
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  4. 4
    Genetic disorders of thyroid development, hormone biosynthesis and signalling

    Genetic disorders of thyroid development, hormone biosynthesis and signalling por Carla Moran, Nadia Schoenmakers, W. Edward Visser, Erik Schoenmakers, Maura Agostini, Krishna Chatterjee

    Publicado 2022
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  5. 5
    Change of Specificity Mutations in Androgen-selective Enhancers

    Change of Specificity Mutations in Androgen-selective Enhancers por Guy Verrijdt, Erik Schoenmakers, Annemie Haelens, Ben Peeters, Guido Verhoeven, Wilfried Rombauts, Frank Claessens

    Publicado 2000
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  6. 6
    Differential DNA binding by the androgen and glucocorticoid receptors involves the second Zn-finger and a C-terminal extension of the DNA-binding domains

    Differential DNA binding by the androgen and glucocorticoid receptors involves the second Zn-finger and a C-terminal extension of the DNA-binding domains por Erik Schoenmakers, Philippe Alen, Guy Verrijdt, Ben Peeters, Guido Verhoeven, Wilfried Rombauts, Frank Claessens

    Publicado 1999
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  7. 7
    Interaction of the Putative Androgen Receptor-Specific Coactivator ARA70/ELE1α with Multiple Steroid Receptors and Identification of an Internally Deleted ELE1β Isoform

    Interaction of the Putative Androgen Receptor-Specific Coactivator ARA70/ELE1α with Multiple Steroid Receptors and Identification of an Internally Deleted ELE1β Isoform por Philippe Alen, Frank Claessens, Erik Schoenmakers, Johannes V. Swinnen, Guido Verhoeven, Wilfried Rombauts, Ben Peeters

    Publicado 1999
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  8. 8
    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

    <i>DUOX2</i>/<i>DUOXA2</i> Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom por Catherine Peters, Adeline K. Nicholas, Erik Schoenmakers, Greta Lyons, Shirley Langham, Eva Serra, Neil J. Sebire, Marina Muzza, Laura Fugazzola, Nadia Schoenmakers

    Publicado 2019
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  9. 9
    Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

    Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins por Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Barton, Susan Price, John W. R. Schwabe, Krishna Chatterjee

    Publicado 2017
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  10. 10
    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

    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 por Carla Moran, Maura Agostini, W. Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Amaka C Offiah, Ken Poole, Odelia Rajanayagam, Greta Lyons, David Halsall, Mark Gurnell, Dionisios Chrysis, Alexandra Efthymiadou, Charles Buchanan, Simon Aylwin, Krishna Chatterjee

    Publicado 2014
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  11. 11
    Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

    Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis por Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena G. Bochukova, Ryuta Tobe, Rachel A. Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, I. Sadaf Farooqi, Greta Lyons, Dolph L. Hatfield, Krishna Chatterjee

    Publicado 2016
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  12. 12
    An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

    An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α por Carla Moran, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Amaka C Offiah, A. Kydd, G. Kahaly, Susan Mohr-Kahaly, Odelia Rajanayagam, Greta Lyons, Nicholas J. Wareham, David Halsall, Mehul Dattani, Stephen G. Hughes, Mark Gurnell, Soo‐Mi Park, Krishna Chatterjee

    Publicado 2013
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  13. 13
    A Pharmacogenetic Approach to the Treatment of Patients With <i>PPARG</i> Mutations

    A Pharmacogenetic Approach to the Treatment of Patients With <i>PPARG</i> Mutations por Maura Agostini, Erik Schoenmakers, Junaid Beig, Louise Fairall, István Szatmári, Odelia Rajanayagam, Frederick W. Muskett, Claire Adams, Adéle Marais, Stephen O’Rahilly, Robert K. Semple, László Nagy, Amit R. Majithia, John W. R. Schwabe, Dirk Blom, Rinki Murphy, Krishna Chatterjee, David B. Savage

    Publicado 2018
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  14. 14
    A Mutation in the Thyroid Hormone Receptor Alpha Gene

    A Mutation in the Thyroid Hormone Receptor Alpha Gene por Elena G. Bochukova, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Odelia Rajanayagam, Julia M. Keogh, Elana Henning, Jana Reinemund, Evelien Gevers, Margarita Sarri, Kate Downes, Amaka C Offiah, Assunta Albanese, David Halsall, John W. R. Schwabe, Murray Bain, Keith Lindley, Francesco Muntoni, Faraneh Vargha‐Khadem, Mehul Dattani, I. Sadaf Farooqi, Mark Gurnell, Krishna Chatterjee

    Publicado 2011
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  15. 15
    Hypothalamic AMPK and fatty acid metabolism mediate thyroid regulation of energy balance

    Hypothalamic AMPK and fatty acid metabolism mediate thyroid regulation of energy balance por Miguel López, Luis Varela, María J. Vázquez, Sergio Rodrı́guez-Cuenca, C. Ruth González, Vidya Velagapudi, Donald A. Morgan, Erik Schoenmakers, Khristofor Agassandian, Ricardo Lage, Pablo B. Martínez de Morentin, Sulay Tovar, Rubén Nogueiras, David Carling, Christopher J. Lelliott, Rosalı́a Gallego, Matej Orešič, Krishna Chatterjee, Asish K. Saha, Kamal Rahmouni, Carlos Diéguez, Antonio Vidal‐Puig

    Publicado 2010
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  16. 16
    Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance

    Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance por Maura Agostini, Erik Schoenmakers, Catherine Mitchell, István Szatmári, David B. Savage, Aaron G. Smith, Odelia Rajanayagam, Robert K. Semple, Jian’an Luan, Louise Bath, A. M. Zalin, Mourad Labib, Sudhesh Kumar, Helen Simpson, Dirk Blom, David Marais, John W. R. Schwabe, Inês Barroso, Richard C. Trembath, Nicholas J. Wareham, László Nagy, Mark Gurnell, Stephen O’Rahilly, Krishna Chatterjee

    Publicado 2006
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  17. 17
    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

    Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism por Hakan Cangül, Xiao-Hui Liao, Erik Schoenmakers, Jukka Kero, Sharon Barone, Panudda Srichomkwun, Hideyuki Iwayama, Eva Serra, Halil Sağlam, Erdal Eren, Ömer Tarım, Adeline K. Nicholas, Ilona Zvetkova, Carl A. Anderson, Fiona E. Karet, Kristien Boelaert, Marja Ojaniemi, Jarmo Jääskeläinen, Konrad Patyra, Christoffer Löf, E. D. Williams, Manoocher Soleimani, Timothy Barrett, Eamonn R. Maher, Krishna Chatterjee, Samuel Refetoff, Nadia Schoenmakers

    Publicado 2018
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  18. 18
    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

    Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ por Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers

    Publicado 2016
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  19. 19
    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

    Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans por Erik Schoenmakers, Maura Agostini, Catherine Mitchell, Nadia Schoenmakers, Laura V. Papp, Odelia Rajanayagam, Raja Padidela, Lourdes Ceron‐Gutierrez, Rainer Döffinger, Claudia Prevosto, Jian’an Luan, Sergio Montaño, Jun Lu, Mireille Castanet, Nicholas J. Clemons, Matthijs Groeneveld, Perrine Castets, Mahsa Karbaschi, Sri W. Aitken, Adrian Dixon, Jane Williams, Irene Campi, Margaret Blount, H. Burton, Francesco Muntoni, Dominic G. O’Donovan, Andrew Dean, A Jane Warren, Charlotte Brierley, David Baguley, Pascale Guicheney, Rebecca C. Fitzgerald, Alasdair Coles, Hill Gaston, Pamela Todd, Arne Holmgren, Kum Kum Khanna, Marcus S. Cooke, Robert K. Semple, David Halsall, Nicholas J. Wareham, John W. R. Schwabe, L. Grasso, Paolo Beck‐Peccoz, Arthur Ogunko, Mehul Dattani, Mark Gurnell, Krishna Chatterjee

    Publicado 2010
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