TRα Mutations in Human

Methods Mol Biol. 2018:1801:241-245. doi: 10.1007/978-1-4939-7902-8_19.

Abstract

Resistance to thyroid hormone alpha is an emerging syndrome, with up to now a limited number of published cases. Some features are common to most of the patients, but there is still some work to provide a comprehensive description of the full spectrum of the syndrome. A survey of the strategy to screen for and characterize the mutations in TR α gene is given.

Keywords: Resistance to thyroid hormone; THRA gene; Thyroid hormone receptor mutation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Biomarkers
  • Child
  • Computational Biology / methods
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Female
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Mutation*
  • Thyroid Hormone Receptors alpha / genetics*
  • Thyroid Hormone Receptors alpha / metabolism
  • Thyroid Hormone Resistance Syndrome / diagnosis
  • Thyroid Hormone Resistance Syndrome / genetics*
  • Thyroid Hormone Resistance Syndrome / metabolism
  • Thyroid Hormones / blood
  • Thyroid Hormones / metabolism

Substances

  • Biomarkers
  • Thyroid Hormone Receptors alpha
  • Thyroid Hormones