Literature DB >> 24823702

Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.

Samuel Refetoff1, J H Duncan Bassett, Paolo Beck-Peccoz, Juan Bernal, Gregory Brent, Krishna Chatterjee, Leslie J De Groot, Alexandra M Dumitrescu, J Larry Jameson, Peter A Kopp, Yoshiharu Murata, Luca Persani, Jacques Samarut, Roy E Weiss, Graham R Williams, Paul M Yen.   

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Year:  2014        PMID: 24823702      PMCID: PMC3942236          DOI: 10.1210/jc.2013-3393

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


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  13 in total

1.  Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

Authors:  S Refetoff; L T DeWind; L J DeGroot
Journal:  J Clin Endocrinol Metab       Date:  1967-02       Impact factor: 5.958

2.  The c-erb-A protein is a high-affinity receptor for thyroid hormone.

Authors:  J Sap; A Muñoz; K Damm; Y Goldberg; J Ghysdael; A Leutz; H Beug; B Vennström
Journal:  Nature       Date:  1986 Dec 18-31       Impact factor: 49.962

3.  The c-erb-A gene encodes a thyroid hormone receptor.

Authors:  C Weinberger; C C Thompson; E S Ong; R Lebo; D J Gruol; R M Evans
Journal:  Nature       Date:  1986 Dec 18-31       Impact factor: 49.962

Review 4.  The syndromes of resistance to thyroid hormone.

Authors:  S Refetoff; R E Weiss; S J Usala
Journal:  Endocr Rev       Date:  1993-06       Impact factor: 19.871

5.  A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

Authors:  S J Usala; G E Tennyson; A E Bale; R W Lash; N Gesundheit; F E Wondisford; D Accili; P Hauser; B D Weintraub
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

6.  Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

Authors:  Alexandra M Dumitrescu; Xiao-Hui Liao; Mohamed S Y Abdullah; Joaquin Lado-Abeal; Fathia Abdul Majed; Lars C Moeller; Gerard Boran; Lutz Schomburg; Roy E Weiss; Samuel Refetoff
Journal:  Nat Genet       Date:  2005-10-16       Impact factor: 38.330

7.  Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

Authors:  R E Weiss; Y Hayashi; T Nagaya; K J Petty; Y Murata; H Tunca; H Seo; S Refetoff
Journal:  J Clin Endocrinol Metab       Date:  1996-12       Impact factor: 5.958

8.  Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.

Authors:  Edith C H Friesema; Annette Grueters; Heike Biebermann; Heiko Krude; Arpad von Moers; Maarten Reeser; Timothy G Barrett; Edna E Mancilla; Johan Svensson; Monique H A Kester; George G J M Kuiper; Sahila Balkassmi; André G Uitterlinden; Josef Koehrle; Patrice Rodien; Andrew P Halestrap; Theo J Visser
Journal:  Lancet       Date:  2004 Oct 16-22       Impact factor: 79.321

9.  A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

Authors:  Alexandra M Dumitrescu; Xiao-Hui Liao; Thomas B Best; Knut Brockmann; Samuel Refetoff
Journal:  Am J Hum Genet       Date:  2003-12-05       Impact factor: 11.025

10.  A mutation in the thyroid hormone receptor alpha gene.

Authors:  Elena Bochukova; Nadia Schoenmakers; Maura Agostini; Erik Schoenmakers; Odelia Rajanayagam; Julia M Keogh; Elana Henning; Jana Reinemund; Evelien Gevers; Margarita Sarri; Kate Downes; Amaka Offiah; Assunta Albanese; David Halsall; John W R Schwabe; Murray Bain; Keith Lindley; Francesco Muntoni; Faraneh Vargha-Khadem; Faraneh Vargha Khadem; Mehul Dattani; I Sadaf Farooqi; Mark Gurnell; Krishna Chatterjee
Journal:  N Engl J Med       Date:  2011-12-14       Impact factor: 91.245

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  19 in total

1.  Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature.

Authors:  Frédéric Flamant; Sheue-Yann Cheng; Anthony N Hollenberg; Lars C Moeller; Jacques Samarut; Fredric E Wondisford; Paul M Yen; Samuel Refetoff
Journal:  Endocrinology       Date:  2017-07-01       Impact factor: 4.736

2.  Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies.

Authors:  Panudda Srichomkwun; Neal H Scherberg; Jasminka Jakšić; Samuel Refetoff
Journal:  AACE Clin Case Rep       Date:  2017

3.  A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T).

Authors:  Xiaochun Teng; Ting Jin; Gregory A Brent; Anhua Wu; Weiping Teng; Zhongyan Shan
Journal:  J Clin Endocrinol Metab       Date:  2015-04-13       Impact factor: 5.958

4.  Understanding the Healthy Thyroid State in 2015.

Authors:  Dagmar Führer; Klaudia Brix; Heike Biebermann
Journal:  Eur Thyroid J       Date:  2015-05-27

5.  Diagnosis and treatment of TSH-secreting adenomas: review of a longtime experience in a reference center.

Authors:  D M Nazato; J Abucham
Journal:  J Endocrinol Invest       Date:  2017-10-11       Impact factor: 4.256

Review 6.  Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Authors:  J H Duncan Bassett; Graham R Williams
Journal:  Endocr Rev       Date:  2016-02-10       Impact factor: 19.871

7.  Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma.

Authors:  Motoyuki Igata; Kaku Tsuruzoe; Junji Kawashima; Daisuke Kukidome; Tatsuya Kondo; Hiroyuki Motoshima; Seiya Shimoda; Noboru Furukawa; Takeshi Nishikawa; Nobuhiro Miyamura; Eiichi Araki
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2016-03-30

8.  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.

Authors:  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 K Chatterjee
Journal:  Lancet Diabetes Endocrinol       Date:  2014-06-23       Impact factor: 32.069

Review 9.  Thyroid diseases and bone health.

Authors:  G R Williams; J H D Bassett
Journal:  J Endocrinol Invest       Date:  2017-08-29       Impact factor: 4.256

Review 10.  Regulation of T3 Availability in the Developing Brain: The Mouse Genetics Contribution.

Authors:  Sabine Richard; Frédéric Flamant
Journal:  Front Endocrinol (Lausanne)       Date:  2018-05-28       Impact factor: 5.555

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