Literature DB >> 24847459

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

Samuel Refetoff1, J H Duncan Bassett2, Paolo Beck-Peccoz3, Juan Bernal4, Gregory Brent5, Krishna Chatterjee6, Leslie J De Groot7, Alexandra M Dumitrescu8, J Larry Jameson9, Peter A Kopp10, Yoshiharu Murata11, Luca Persani12, Jacques Samarut13, Roy E Weiss14, Graham R Williams2, Paul M Yen15.   

Abstract

Entities:  

Year:  2014        PMID: 24847459      PMCID: PMC4005262          DOI: 10.1159/000358180

Source DB:  PubMed          Journal:  Eur Thyroid J        ISSN: 2235-0640


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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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  8 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

Review 2.  Thyroid Hormone Replacement in Patients Following Thyroidectomy for Thyroid Cancer.

Authors:  Zeina C Hannoush; Roy E Weiss
Journal:  Rambam Maimonides Med J       Date:  2016-01-28

Review 3.  How zebrafish research has helped in understanding thyroid diseases.

Authors:  Federica Marelli; Luca Persani
Journal:  F1000Res       Date:  2017-12-14

Review 4.  Resistance to Thyroid Hormone Beta: A Focused Review.

Authors:  Theodora Pappa; Samuel Refetoff
Journal:  Front Endocrinol (Lausanne)       Date:  2021-03-31       Impact factor: 5.555

Review 5.  Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Authors:  Kyu Won Lee; Yoochan Shin; Sungahn Lee; Sihoon Lee
Journal:  Front Endocrinol (Lausanne)       Date:  2022-01-18       Impact factor: 5.555

6.  Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.

Authors:  Yasmine Abdellaoui; Dimitra Magkou; Sofia Bakopoulou; Ramona Zaharia; Marie-Laure Raffin-Sanson; Laure Cazabat
Journal:  Eur Thyroid J       Date:  2020-04-17

Review 7.  The diagnosis and management of central hypothyroidism in 2018.

Authors:  Luca Persani; Biagio Cangiano; Marco Bonomi
Journal:  Endocr Connect       Date:  2019-02       Impact factor: 3.335

Review 8.  Update on resistance to thyroid hormone syndromeβ.

Authors:  Hongping Sun; Lin Cao; Rendong Zheng; Shaofeng Xie; Chao Liu
Journal:  Ital J Pediatr       Date:  2020-11-11       Impact factor: 2.638

  8 in total

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