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• W1482339273 abstract "ThyroidVol. 24, No. 3 CommentaryClassification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and MetabolismSamuel Refetoff, 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, and Paul M. YenSamuel RefetoffDepartment of Medicine, The University of Chicago, Chicago, Illinois.Department of Pediatrics, The University of Chicago, Chicago, Illinois.Department of Genetics, The University of Chicago, Chicago, Illinois.Search for more papers by this author, J.H. Duncan BassettDepartment of Medicine, Imperial College London, London, United Kingdom.Search for more papers by this author, Paolo Beck-PeccozDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy.Fondazione Ca’ Granda Policlinico, Milan, Italy.Search for more papers by this author, Juan BernalInstitute for Biomedical Research, Higher Council for Scientific Research, Autonomous University of Madrid, Madrid, Spain.Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.Search for more papers by this author, Gregory BrentDepartment of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.Search for more papers by this author, Krishna ChatterjeeWellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.Search for more papers by this author, Leslie J. De GrootThyroidmanager and Endotext, South Dartmouth, Massachusetts.Search for more papers by this author, Alexandra M. DumitrescuDepartment of Medicine, The University of Chicago, Chicago, Illinois.Search for more papers by this author, J. Larry JamesonRaymond and Ruth Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.Search for more papers by this author, Peter A. KoppDivision of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.Search for more papers by this author, Yoshiharu MurataResearch Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.Search for more papers by this author, Luca PersaniDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy.Italian Institute for Auxology, Milan, Italy.Search for more papers by this author, Jacques SamarutEcole Normale Supérieure de Lyon, Lyon, France.Search for more papers by this author, Roy E. WeissDepartment of Medicine, The University of Chicago, Chicago, Illinois.Department of Pediatrics, The University of Chicago, Chicago, Illinois.Search for more papers by this author, Graham R. WilliamsDepartment of Medicine, Imperial College London, London, United Kingdom.Search for more papers by this author, and Paul M. YenLaboratory of Hormone Action, Singapore Institute of Clinical Sciences, Singapore.Search for more papers by this authorPublished Online:7 Mar 2014https://doi.org/10.1089/thy.2013.3393.nomenAboutSectionsView articleView Full TextPDF/EPUB Permissions & CitationsPermissionsDownload CitationsTrack CitationsAdd to favorites Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail View articleFiguresReferencesRelatedDetailsCited byHypothyroidism19 May 2022 | Nature Reviews Disease Primers, Vol. 8, No. 1Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation3 December 2022 | International Journal of Molecular Sciences, Vol. 23, No. 23Thyroid hormone resistance with succinate dehydrogenase-B gene mutationMinerva Endocrinology, Vol. 47, No. 2Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression18 January 2022 | Frontiers in Endocrinology, Vol. 12Hypothyroidism25 November 2022Hypothyroidism27 July 2022Thyroid-Stimulating HormoneTroubles de la sensibilité aux hormones thyroïdiennesDefective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β Peter Lauffer, Hennie Bikker, Mark R. Garrelfs, Jacquelien J.G. Hillebrand, Marie-Louise C.S. de Sonnaville, Nitash Zwaveling-Soonawala, and A.S. Paul van Trotsenburg10 November 2021 | Thyroid, Vol. 31, No. 11Generation and Characterization of a New Resistance to Thyroid Hormone Mouse Model with Thyroid Hormone Receptor Alpha Gene Mutation Yue Liang, Defa Zhao, Ranran Wang, Pingping Dang, Yue Xi, Dan Zhang, Wei Wang, Zhongyan Shan, Xiaochun Teng, and Weiping Teng12 April 2021 | Thyroid, Vol. 31, No. 4Resistance to Thyroid Hormone Beta: A Focused Review31 March 2021 | Frontiers in Endocrinology, Vol. 12Identification of Resistance to Exogenous Thyroxine in Humans Nerea Lacámara, Beatriz Lecumberri, Beatriz Barquiel, Arancha Escribano, Isabel González-Casado, Cristina Álvarez-Escolá, Fernando Aleixandre-Blanquer, Francisco Morales, Rocío Alfayate, Mari Carmen Bernal-Soriano, Raquel Miralles, Ilgin Yildirim Simsir, Ahmet Gökhan Özgen, Juan Bernal, Pere Berbel, and Jose Carlos Moreno7 December 2020 | Thyroid, Vol. 30, No. 12Noncanonical Action of Thyroid Hormone Receptors α and β24 April 2020 | Experimental and Clinical Endocrinology & Diabetes, Vol. 128, No. 06/07Genomic and Non-Genomic Mechanisms of Action of Thyroid Hormones and Their Catabolite 3,5-Diiodo-L-Thyronine in Mammals10 June 2020 | International Journal of Molecular Sciences, Vol. 21, No. 11Thyroid hormone resistance from newborns to adults: a Spanish experience1 February 2019 | Journal of Endocrinological Investigation, Vol. 42, No. 8Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)11 April 2019 | Molecular Diagnosis & Therapy, Vol. 23, No. 3Herausfordernde Levothyroxinsubstitutionstherapie während einer Schwangerschaft27 June 2019 | Journal für Klinische Endokrinologie und Stoffwechsel, Vol. 12, No. 2Herausfordernde Levothyroxinsubstitutionstherapie während einer Schwangerschaft12 June 2019 | Journal für Gynäkologische Endokrinologie/Schweiz, Vol. 22, No. 2Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy Kyoko Takeda, Ken-ichi Nemoto, Yoshitaka Hayashi, Michiyo Yamamoto, Ryoichi Sakuta, Tetsuya Kimura, and Hiroshi Noto9 April 2019 | Thyroid, Vol. 29, No. 4Thyroid hormone resistance and the value of geneticsMedicine, Vol. 98, No. 9Impaired Sensitivity to Thyroid Hormones Is Associated With Diabetes and Metabolic Syndrome14 December 2018 | Diabetes Care, Vol. 42, No. 2Thyroid Hormone Biosynthesis and Physiology1 November 201813th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action Graham R. Williams, Anita Boelen, and Samuel Refetoff1 June 2018 | Thyroid, Vol. 28, No. 6Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromesMolecular and Cellular Endocrinology, Vol. 458Novel aspects of T3 actions on GH and TSH synthesis and secretion: physiological implicationsJournal of Molecular Endocrinology, Vol. 59, No. 4Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature1 May 2017 | Endocrinology, Vol. 158, No. 7Gene expression of T3-regulated genes in a mouse model of the human thyroid hormone resistanceLife Sciences, Vol. 170Genetic Investigation of Thyroid Hormone Receptor Function in the Developing and Adult BrainSuccessful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report12 January 2016 | BMC Endocrine Disorders, Vol. 16, No. 1Hypothalamus‐Pituitary‐Thyroid Axis13 June 2016Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone actionMolecular and Cellular Endocrinology, Vol. 424Syndromes of Impaired Sensitivity to Thyroid HormoneAutonomously Functioning Thyroid Nodules and Other Causes of ThyrotoxicosisResistance to thyroid hormone α, revelation of basic study to clinical consequencesJournal of Pediatric Endocrinology and Metabolism, Vol. 29, No. 5Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone (Th) resistance and suggestions for differential diagnosis in patients without mutation of Th receptor β14 August 2014 | Clinical Endocrinology, Vol. 81, No. 6Conservative Management of Pregnancy in Patients with Resistance to Thyroid Hormone Associated with Hashimoto's Thyroiditis Corinne Jonas and Chantal Daumerie11 November 2014 | Thyroid, Vol. 24, No. 11Thyroid hormone receptors and resistance to thyroid hormone disorders19 August 2014 | Nature Reviews Endocrinology, Vol. 10, No. 10An Evo-Devo Approach to Thyroid Hormones in Cerebral and Cerebellar Cortical Development: Etiological Implications for Autism9 September 2014 | Frontiers in Endocrinology, Vol. 5 Volume 24Issue 3Mar 2014 InformationCopyright 2014, Mary Ann Liebert, Inc.To cite this article:Samuel Refetoff, 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, and Paul M. Yen.Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism.Thyroid.Mar 2014.407-409.http://doi.org/10.1089/thy.2013.3393.nomenPublished in Volume: 24 Issue 3: March 7, 2014Online Ahead of Print:March 4, 2014PDF download" @default.
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