Resistance to Thyroid Hormone α-Emerging Definition of a Disorder of Thyroid Hormone Action

被引：27
作者：
Moran, Carla [1 ]
Chatterjee, Krishna [1 ]
机构：
[1] Univ Cambridge, Addenbrookes Hosp, Wellcome Trust MRCInst Metab Sci, Inst Metab Sci,Metab Res Labs, Level 4,Box 289, Cambridge CB2 0QQ, England
来源：
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2016年 / 101卷 / 07期
基金：
英国惠康基金;
关键词：
RECEPTOR-ALPHA; CLINICAL PHENOTYPE; MUTATION; GENE; THRA; TR-ALPHA-1;
D O I：
10.1210/jc.2016-2317
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：2636 / 2639
页数：4
相关论文
共 21 条
[1]   A Mutation in the Thyroid Hormone Receptor Alpha Gene [J].
Bochukova, Elena ;
Schoenmakers, Nadia ;
Agostini, Maura ;
Schoenmakers, Erik ;
Rajanayagam, Odelia ;
Keogh, Julia M. ;
Henning, Elana ;
Reinemund, Jana ;
Gevers, Evelien ;
Sarri, Margarita ;
Downes, Kate ;
Offiah, Amaka ;
Albanese, Assunta ;
Halsall, David ;
Schwabe, John W. R. ;
Bain, Murray ;
Lindley, Keith ;
Muntoni, Francesco ;
Khadem, Faraneh Vargha ;
Dattani, Mehul ;
Farooqi, I. Sadaf ;
Gurnell, Mark ;
Chatterjee, Krishna .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (03) :243-249
[2]   A novel TRβ mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation [J].
Clifton-Bligh, RJ ;
de Zegher, F ;
Wagner, RL ;
Collingwood, TN ;
Francois, I ;
Van Helvoirt, M ;
Fletterick, RJ ;
Chatterjee, VKK .
MOLECULAR ENDOCRINOLOGY, 1998, 12 (05) :609-621
[3]  
Demir K, 2016, J CLIN ENDOCR METAB, V101, P2612
[4]   A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone [J].
Espiard, Stephanie ;
Savagner, Frederique ;
Flamant, Frederic ;
Vlaeminck-Guillem, Virginie ;
Guyot, Romain ;
Munier, Mathilde ;
d'Herbomez, Michele ;
Bourguet, William ;
Pinto, Graziella ;
Rose, Christian ;
Rodien, Patrice ;
Wemeau, Jean-Louis .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 100 (08) :2841-2848
[5]  
Gurnell M, 2015, ENDOCRINOLOGY, P1648
[6]   A targeted dominant negative mutation of the thyroid hormone α1 receptor causes increased mortality, infertility, and dwarfism in mice [J].
Kaneshige, M ;
Suzuki, H ;
Kaneshige, K ;
Cheng, J ;
Wimbrow, H ;
Barlow, C ;
Willingham, MC ;
Cheng, SY .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (26) :15095-15100
[7]   THYROID-HORMONE RECEPTORS - MULTIPLE FORMS, MULTIPLE POSSIBILITIES [J].
LAZAR, MA .
ENDOCRINE REVIEWS, 1993, 14 (02) :184-193
[8]   Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes [J].
Majithia, Amit R. ;
Flannick, Jason ;
Shahinian, Peter ;
Guo, Michael ;
Bray, Mark-Anthony ;
Fontanillas, Pierre ;
Gabriel, Stacey B. ;
Rosen, Evan D. ;
Altshuler, David .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (36) :13127-13132
[9]   Thyroid Hormones Regulate Selenoprotein Expression and Selenium Status in Mice [J].
Mittag, Jens ;
Behrends, Thomas ;
Hoefig, Carolin S. ;
Vennstrom, Bjorn ;
Schomburg, Lutz .
PLOS ONE, 2010, 5 (09) :1-8
[10]   Resistance to thyroid hormone due to defective thyroid receptor alpha [J].
Moran, Carla ;
Chatterjee, Krishna .
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2015, 29 (04) :647-657
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