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

Affiliations

¹ Department of Medicine, The University of Chicago, Chicago, Ill., USA ; Department of Pediatrics, The University of Chicago, Chicago, Ill., USA ; Department of Genetics, The University of Chicago, Chicago, Ill., USA.
² Department of Medicine, Imperial College London, London, UK.
³ Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy ; Fondazione Ca' Granda Policlinico, Milan, Italy.
⁴ Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autonoma de Madrid and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
⁵ Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Calif., USA.
⁶ Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
⁷ Thyroidmanager and Endotext, South Dartmouth, Mass.
⁸ Department of Medicine, The University of Chicago, Chicago, Ill., USA.
⁹ Raymond and Ruth Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.
¹⁰ Division of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Ill., USA.
¹¹ Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
¹² Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy ; Istituto Auxologico Italiano, Milan, Italy.
¹³ Ecole Normale Supérieure de Lyon, Lyon, France.
¹⁴ Department of Medicine, The University of Chicago, Chicago, Ill., USA ; Department of Pediatrics, The University of Chicago, Chicago, Ill., USA.
¹⁵ Laboratory of Hormone Action, Singapore Institute of Clinical Sciences, Singapore, Singapore.

PMID: 24847459
PMCID: PMC4005262
DOI: 10.1159/000358180

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

Samuel Refetoff et al. Eur Thyroid J. 2014 Mar.

. 2014 Mar;3(1):7-9.

doi: 10.1159/000358180. Epub 2014 Mar 4.

Authors

Affiliations

¹ Department of Medicine, The University of Chicago, Chicago, Ill., USA ; Department of Pediatrics, The University of Chicago, Chicago, Ill., USA ; Department of Genetics, The University of Chicago, Chicago, Ill., USA.
² Department of Medicine, Imperial College London, London, UK.
³ Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy ; Fondazione Ca' Granda Policlinico, Milan, Italy.
⁴ Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autonoma de Madrid and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
⁵ Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Calif., USA.
⁶ Wellcome-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
⁷ Thyroidmanager and Endotext, South Dartmouth, Mass.
⁸ Department of Medicine, The University of Chicago, Chicago, Ill., USA.
⁹ Raymond and Ruth Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.
¹⁰ Division of Endocrinology, Metabolism, and Molecular Medicine and Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Ill., USA.
¹¹ Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
¹² Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy ; Istituto Auxologico Italiano, Milan, Italy.
¹³ Ecole Normale Supérieure de Lyon, Lyon, France.
¹⁴ Department of Medicine, The University of Chicago, Chicago, Ill., USA ; Department of Pediatrics, The University of Chicago, Chicago, Ill., USA.
¹⁵ Laboratory of Hormone Action, Singapore Institute of Clinical Sciences, Singapore, Singapore.

PMID: 24847459
PMCID: PMC4005262
DOI: 10.1159/000358180

No abstract available

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References

1. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27:279–294. - PubMed
1. Sakurai A, Takeda K, Ain K, et al. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β. Proc Natl Acad Sci USA. 1989;86:8977–8981. - PMC - PubMed
1. Usala SJ, Tennyson GE, Bale AE, et al. A base mutation of the c-erbA β thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest. 1990;85:93–100. - PMC - PubMed
1. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM. The c-erb-A gene encodes a thyroid hormone receptor. Nature. 1986;324:641–646. - PubMed
1. Sap J, Muñoz A, Damm K, et al. The c-erb-A protein is a high-affinity receptor for thyroid hormone. Nature. 1986;324:635–640. - PubMed

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

Affiliations

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

Authors

Affiliations

References

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources