共 21 条
[21]
ZHANG R, 1991, AM J PHYSIOL, V260, pC26
REQUIREMENT OF HUMAN RENAL WATER CHANNEL AQUAPORIN-2 FOR VASOPRESSIN-DEPENDENT CONCENTRATION OF URINE
被引：714
作者：
DEEN, PMT
VERDIJK, MAJ
KNOERS, NVAM
WIERINGA, B
MONNENS, LAH
VANOS, CH
VANOOST, BA
机构：
[1] CATHOLIC UNIV NIJMEGEN, DEPT CELL PHYSIOL, 6500 HB NIJMEGEN, NETHERLANDS
[2] CATHOLIC UNIV NIJMEGEN, DEPT CELLULAR BIOL, 6500 HB NIJMEGEN, NETHERLANDS
[3] UNIV HOSP NIJMEGEN, DEPT HUMAN GENET, 6500 HB NIJMEGEN, NETHERLANDS
[4] UNIV HOSP NIJMEGEN, DEPT PEDIAT, 6500 HB NIJMEGEN, NETHERLANDS
来源：
关键词：
D O I：
10.1126/science.8140421
中图分类号：
O [数理科学和化学];
P [天文学、地球科学];
Q [生物科学];
N [自然科学总论];
学科分类号：
07 ;
0710 ;
09 ;
摘要：
Concentration of urine in mammals is regulated by the antidiuretic hormone vasopressin. Binding of vasopressin to its V2 receptor leads to the insertion of water channels in apical membranes of principal cells in collecting ducts. In nephrogenic diabetes insipidus (NDI), the kidney fails to concentrate urine in response to vasopressin. A male patient with an autosomal recessive form of NDI was found to be a compound heterozygote for two mutations in the gene encoding aquaporin-2, a water channel. Functional expression studies in Xenopus oocytes revealed that each mutation resulted in nonfunctional water channel proteins. Thus, aquaporin-2 is essential for vasopressin-dependent concentration of urine.
引用
收藏
页码：92 / 95
页数：4
相关论文