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Germline and somatic thyroid hormone receptor mutations in man

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Abstract

Thyroid hormone plays important roles in metabolism, growth, and differentiation. Germline mutations in thyroid hormone receptor β (TRβ) have been identified in many individuals with resistance to thyroid hormone (RTH), a syndrome of hyposensitivity to T3. However, it has become increasingly apparent that somatic mutations can also occur in individual tissues, and are associated with tumors and malignancies in man. Herein we review the occurrence and identification of germline and somatic TR mutations and characterization of their pathological effects on hormone resistance and tumorigenesis.

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Authors and Affiliations

  1. Molecular Regulation and Neuroendocrinology Section, Clinical Endocrinology Branch, National Institute of Diabetes, Digestive and Kidney Disease, USA

    P. M. Yen MD

  2. Gene Regulation Section, Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, USA, MD, 20892

    S. Y. Cheng

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  1. P. M. Yen MD
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Correspondence to P. M. Yen MD.

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Yen, P.M., Cheng, S.Y. Germline and somatic thyroid hormone receptor mutations in man. J Endocrinol Invest 26, 780–787 (2003). https://doi.org/10.1007/BF03347365

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