Literature DB >> 23837191

RTHα, a newly recognized phenotype of the resistance to thyroid hormone (RTH) syndrome in patients with THRA gene mutations.

Ann Marie Zavacki, P Reed Larsen.   

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Year:  2013        PMID： 23837191      PMCID： PMC3701265          DOI： 10.1210/jc.2013-2475

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  18 in total

1.  Clinical phenotype and mutant TRα1.

Authors:  Alies van Mullem; Ramona van Heerebeek; Dionisios Chrysis; Edward Visser; Marco Medici; Maria Andrikoula; Agathocles Tsatsoulis; Robin Peeters; Theo J Visser
Journal:  N Engl J Med       Date:  2012-04-12       Impact factor: 91.245

2.  Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

Authors:  R Parrilla; A J Mixson; J A McPherson; J H McClaskey; B D Weintraub
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

3.  Thyroid hormone receptor alpha1 directly controls transcription of the beta-catenin gene in intestinal epithelial cells.

Authors:  Michelina Plateroti; Elsa Kress; Jun Ichirou Mori; Jacques Samarut
Journal:  Mol Cell Biol       Date:  2006-04       Impact factor: 4.272

4.  A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2.

Authors:  Sangho Lee; Briana M Young; Wei Wan; Ivan H Chan; Martin L Privalsky
Journal:  Mol Endocrinol       Date:  2011-05-26

5.  Type 1 iodothyronine deiodinase is a sensitive marker of peripheral thyroid status in the mouse.

Authors:  Ann Marie Zavacki; Hao Ying; Marcelo A Christoffolete; Goele Aerts; Edward So; John W Harney; Sheue-Yann Cheng; P Reed Larsen; Antonio C Bianco
Journal:  Endocrinology       Date:  2004-12-09       Impact factor: 4.736

Review 6.  Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases.

Authors:  Antonio C Bianco; Domenico Salvatore; Balázs Gereben; Marla J Berry; P Reed Larsen
Journal:  Endocr Rev       Date:  2002-02       Impact factor: 19.871

7.  A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice.

Authors:  M Kaneshige; H Suzuki; K Kaneshige; J Cheng; H Wimbrow; C Barlow; M C Willingham; S Cheng
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-04       Impact factor: 11.205

8.  The increased incidence of congenital hypothyroidism: fact or fancy?

Authors:  Marvin L Mitchell; Ho-Wen Hsu; Inderneel Sahai
Journal:  Clin Endocrinol (Oxf)       Date:  2011-12       Impact factor: 3.478

9.  Thyroid hormone receptor α and regulation of type 3 deiodinase.

Authors:  Olga Barca-Mayo; Xiao-Hui Liao; Manuela Alonso; Caterina Di Cosmo; Arturo Hernandez; Samuel Refetoff; Roy E Weiss
Journal:  Mol Endocrinol       Date:  2011-02-03

Review 10.  Severe psychomotor and metabolic damages caused by a mutant thyroid hormone receptor alpha 1 in mice: can patients with a similar mutation be found and treated?

Authors:  Björn Vennström; Jens Mittag; Karin Wallis
Journal:  Acta Paediatr       Date:  2008-09-15       Impact factor: 2.299
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  4 in total

Review 1.  Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.

Authors:  Alies A van Mullem; Theo J Visser; Robin P Peeters
Journal:  Eur Thyroid J       Date:  2014-03-14

Review 2.  Thyroid hormone regulation of metabolism.

Authors:  Rashmi Mullur; Yan-Yun Liu; Gregory A Brent
Journal:  Physiol Rev       Date:  2014-04       Impact factor: 37.312

3.  A novel mutation of thyroid hormone receptor β in exon 10 in a case of thyroid hormone-resistant non-Hodgkin's lymphoma of the thyroid.

Authors:  Ke Chen; Yanhong Xie; Liling Zhao; Shaoli Zhao; Honghui He; Zhaohui Mo
Journal:  Oncol Lett       Date:  2014-11-20       Impact factor: 2.967

4.  Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.

Authors:  J H Duncan Bassett; Alan Boyde; Tomas Zikmund; Holly Evans; Peter I Croucher; Xuguang Zhu; Jeong Won Park; Sheue-yann Cheng; Graham R Williams
Journal:  Endocrinology       Date:  2014-06-10       Impact factor: 4.736
  4 in total

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