Article
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
The Journal of clinical endocrinology and metabolism - 1 Jul 2007
Grasberger Helmut, Van Sande Jacqueline, Hag-Dahood Mahameed Ahmad, Tenenbaum-Rakover Yardena, Refetoff Samuel
Abstract excerpt
CONTEXT: In the human thyroid gland, TSH activates both the cAMP and inositol phosphates (IP) signaling cascades via binding to the TSH receptor (TSHR). Biallelic TSHR loss-of-function mutations cause resistance to TSH, clinically characterized by hyperthyrotropinemia, and normal or reduced thyroid gland volume, thyroid hormone output, and iodine uptake. OBJECTIVE: We report and study a novel familial TSHR...
Topics
- Adult
- Animals
- COS Cells
- Calcium
- Child
- Chlorocebus aethiops
- Cyclic AMP
- Female
- Humans
- Inositol Phosphates
- Male
- Pedigree
- Phenotype
- Receptors, Thyrotropin
- Signal Transduction