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Germline and somatic thyroid hormone receptor mutations in man.

Publication ,  Journal Article
Yen, PM; Cheng, SY
Published in: J Endocrinol Invest
August 2003

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.

Duke Scholars

Published In

J Endocrinol Invest

DOI

ISSN

0391-4097

Publication Date

August 2003

Volume

26

Issue

8

Start / End Page

780 / 787

Location

Italy

Related Subject Headings

  • Transcription, Genetic
  • Thyroid Neoplasms
  • Thyroid Hormone Resistance Syndrome
  • Receptors, Thyroid Hormone
  • Pituitary Neoplasms
  • Mutation
  • Humans
  • Germ-Line Mutation
  • Endocrinology & Metabolism
  • Animals
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Yen, P. M., & Cheng, S. Y. (2003). Germline and somatic thyroid hormone receptor mutations in man. J Endocrinol Invest, 26(8), 780–787. https://doi.org/10.1007/BF03347365
Yen, P. M., and S. Y. Cheng. “Germline and somatic thyroid hormone receptor mutations in man.J Endocrinol Invest 26, no. 8 (August 2003): 780–87. https://doi.org/10.1007/BF03347365.
Yen PM, Cheng SY. Germline and somatic thyroid hormone receptor mutations in man. J Endocrinol Invest. 2003 Aug;26(8):780–7.
Yen, P. M., and S. Y. Cheng. “Germline and somatic thyroid hormone receptor mutations in man.J Endocrinol Invest, vol. 26, no. 8, Aug. 2003, pp. 780–87. Pubmed, doi:10.1007/BF03347365.
Yen PM, Cheng SY. Germline and somatic thyroid hormone receptor mutations in man. J Endocrinol Invest. 2003 Aug;26(8):780–787.
Journal cover image

Published In

J Endocrinol Invest

DOI

ISSN

0391-4097

Publication Date

August 2003

Volume

26

Issue

8

Start / End Page

780 / 787

Location

Italy

Related Subject Headings

  • Transcription, Genetic
  • Thyroid Neoplasms
  • Thyroid Hormone Resistance Syndrome
  • Receptors, Thyroid Hormone
  • Pituitary Neoplasms
  • Mutation
  • Humans
  • Germ-Line Mutation
  • Endocrinology & Metabolism
  • Animals