Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis

Congenital nephrogenic diabetes insipidus (CNDI) is a genetic disorder caused by mutations in arginine vasopressin receptor 2 (<i>AVPR2</i>) or aquaporin 2 genes, rendering collecting duct cells insensitive to the peptide hormone arginine vasopressin stimulation for water reabsorption. T...

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Bibliographic Details
Main Authors: Ming-Chun Chen, Yu-Chao Hsiao, Chun-Chun Chang, Sheng-Feng Pan, Chih-Wen Peng, Ya-Tzu Li, Cheng-Der Liu, Je-Wen Liou, Hao-Jen Hsu
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Biomedicines
Subjects:
Online Access:https://www.mdpi.com/2227-9059/9/3/301