A dog carrying mutations in AVP-NPII exhibits key features of central diabetes insipidus  

作　　者：Huijuan Xu Haiyang Hao Shirui Wang Xueru Liu Wen Lyu Zhentao Zuo Yan Zhuo Jidong Mi Yong Q.Zhang Rui Tian Huijuan Zhu 

机构地区：[1]State Key Laboratory for Molecular Developmental Biology,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing 100101,China [2]College of Life Sciences,University of Chinese Academy of Sciences,Beijing 100049,China [3]Beijing Sinogene Biotechnology Co.Ltd,Beijing 100005,China [4]Department of Endocrinology,Peking Union Medical College Hospital,Beijing 100730,China [5]State Key Laboratory of Brain and Cognitive Science,Institute of Biophysics,Chinese Academy of Sciences,Beijing 100101,China [6]Hefei Comprehensive National Science Center,Institute of Artificial Intelligence,Hefei,Anhui 230088,China

出　　处：《Journal of Genetics and Genomics》2023年第4期280-283,共4页遗传学报（英文版）

基　　金：supported by grants from the National Key Research and Development Program(2019YFA0707100 and 2021ZD0203901 to Y.Q.Zhang and R.Tian);the Strategic Priority Research Program B of the Chinese Academy of Sciences(XDBS1020100 to Y.Q.Zhang);the National Science Foundation of China(31830036 and 31921002 to Y.Q.Zhang)。

摘　　要：Central diabetes insipidus(CDI)is a rare disease characterized by the excretion of copious amounts of diluted urine(polyuria),excess water intake(polydipsia),and a rise in serum sodium concentration(hypernatremia)(Christ-Crain et al.,2019).The neuropeptide arginine-vasopressin(AVP)is synthesized as a preprohormone along with its carrier protein neurophysin II(NPII)in hypothalamic supraoptic(SON)and paraventricular(PVN)magnocellular neurons,stored in the posterior pituitary,and secreted into the circulation.

关 键 词：AVP DILUTED rare 

分 类 号：R584.3[医药卫生—内分泌]