Article
Two vasopressin type 2 receptor gene mutations R143P and delta V278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor.
Biochemical and biophysical research communications - 26 Jun 1995
Tsukaguchi H, Matsubara H, Mori Y, Yoshimasa Y, Yoshimasa T, Nakao K, Inada M
Abstract excerpt
We recently identified vasopressin type 2 receptor gene mutations in two unrelated Japanese families with X-linked nephrogenic diabetes insipidus, which were a missense mutation from Arg143 to Pro (R143P) and a single amino acid deletion of Val278 or 279 (delta V278). To investigate the mechanism...
Topics
- Amino Acid Sequence
- Animals
- Arginine Vasopressin
- Asian People
- Base Sequence
- Blotting, Northern
- CHO Cells
- Cricetinae
- Cyclic AMP
- Diabetes Insipidus, Nephrogenic
- Dose-Response Relationship, Drug
- Drug Resistance
- Humans
- Japan
- Kinetics