Article
Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors.
The Journal of clinical investigation - 1 Jun 1991
Chatterjee V K, Nagaya T, Madison L D, Datta S, Rentoumis A, Jameson J L
Abstract excerpt
Thyroid hormone (T3) resistance is inherited in most cases in an autosomal dominant manner. The disorder is characterized by elevated free thyroid hormone levels and partial resistance to thyroid hormone at the cellular level. Distinct single amino acid substitutions in the ligand binding domain...
Topics
- Base Sequence
- Cloning, Molecular
- DNA Mutational Analysis
- Gene Expression Regulation
- Genes, Dominant
- Humans
- In Vitro Techniques
- Molecular Sequence Data
- Mutation
- Receptors, Thyroid Hormone
- Signal Transduction
- Transcription, Genetic
- Triiodothyronine