title: Germline and somatic thyroid hormone receptor mutations in man.
abstract: Thyroid hormone plays important roles in metabolism, growth, and differentiation. Germline mutations in thyroid hormone receptor beta (TRbeta) 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.
authors.affiliation: Molecular Regulation and Neuroendocrinology Section, Clinical Endocrinology Branch, National Institute of Diabetes, Digestive and Kidney Disease, National Institutes of Health, Bethesda, MD 20892, USA. pauly@intra.niddk.nih.gov
authors.forename: P M
authors.initials: PM
authors.lastname: Yen
authors.forename: S Y
authors.initials: SY
authors.lastname: Cheng
mesh_terms: D000818:Animals; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000502:physiology*; D010911:Pituitary Neoplasms / Q000235:genetics; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D011988:Receptors, Thyroid Hormone