Literature DB >> 24588711

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： 24588711      PMCID： PMC3950730          DOI： 10.1089/thy.2013.3393.nomen

Source DB:  PubMed          Journal:  Thyroid        ISSN： 1050-7256            Impact factor:   6.568


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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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  14 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.  Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Authors:  Paola Concolino; Alessandra Costella; Rosa Maria Paragliola
Journal:  Mol Diagn Ther       Date:  2019-06       Impact factor: 4.074

Review 3.  Thyroid hormone receptors and resistance to thyroid hormone disorders.

Authors:  Tânia M Ortiga-Carvalho; Aniket R Sidhaye; Fredric E Wondisford
Journal:  Nat Rev Endocrinol       Date:  2014-08-19       Impact factor: 43.330

Review 4.  Hypothyroidism.

Authors:  Layal Chaker; Salman Razvi; Isabela M Bensenor; Fereidoun Azizi; Elizabeth N Pearce; Robin P Peeters
Journal:  Nat Rev Dis Primers       Date:  2022-05-19       Impact factor: 52.329

5.  Thyroid hormone resistance from newborns to adults: a Spanish experience.

Authors:  A Vela; G Pérez-Nanclares; I Ríos; I Rica; N Portillo; L Castaño
Journal:  J Endocrinol Invest       Date:  2019-02-01       Impact factor: 4.256

6.  Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.

Authors:  Irene Campi; Maura Agostini; Federica Marelli; Tiziana de Filippis; Beatriz Romartinez-Alonso; Odelia Rajanayagam; Giuditta Rurale; Ilaria Gentile; Federica Spagnolo; Massimiliano Andreasi; Francesco Ferraù; Salvatore Cannavò; Laura Fugazzola; Krishna V Chatterjee; Luca Persani
Journal:  Eur Thyroid J       Date:  2021-10-22

Review 7.  An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism.

Authors:  Pere Berbel; Daniela Navarro; Gustavo C Román
Journal:  Front Endocrinol (Lausanne)       Date:  2014-09-09       Impact factor: 5.555

8.  Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.

Authors:  Yoshihiro Maruo; Asami Mori; Yoriko Morioka; Chihiro Sawai; Yu Mimura; Katsuyuki Matui; Yoshihiro Takeuchi
Journal:  BMC Endocr Disord       Date:  2016-01-12       Impact factor: 2.763

9.  A Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis.

Authors:  Martina Savovska; Sinisa Stojanoski; Nevena Manevska
Journal:  Open Access Maced J Med Sci       Date:  2019-06-29

Review 10.  Genomic and Non-Genomic Mechanisms of Action of Thyroid Hormones and Their Catabolite 3,5-Diiodo-L-Thyronine in Mammals.

Authors:  Marco Giammanco; Carlo Maria Di Liegro; Gabriella Schiera; Italia Di Liegro
Journal:  Int J Mol Sci       Date:  2020-06-10       Impact factor: 5.923
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