Germline and somatic thyroid hormone receptor mutations in man.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Yen, PM; Cheng, SY

Published Date

  • August 2003

Published In

Volume / Issue

  • 26 / 8

Start / End Page

  • 780 - 787

PubMed ID

  • 14669837

International Standard Serial Number (ISSN)

  • 0391-4097

Digital Object Identifier (DOI)

  • 10.1007/BF03347365


  • eng

Conference Location

  • Italy