Article
Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.
Frontiers in endocrinology - 1 Jan 2021
Li Qian, Lu Bichao, Yang Jia, Li Chao, Li Yanchun, Chen Hui, Li Naishi, Duan Lian, Gu Feng, Zhang Jianmin, Xia Weibo
Abstract excerpt
The aquaporin 2 (AQP2) plays a critical role in water reabsorption to maintain water homeostasis. AQP2 mutation leads to nephrogenic diabetes insipidus (NDI), characterized by polyuria, polydipsia, and hypernatremia. We previously reported that a novel AQP2 mutation (G215S) caused NDI in a boy. In this study, we aimed to elucidate the cell biological consequences of this mutation on AQP2 function and clarify the...
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