Characterization of V71M mutation in the aquaporin-2 gene causing nephrogenic diabetes insipidus

被引:0
作者
N. Bougacha-Elleuch
M. Ben Lassoued
N. Miled
S. Zouari
H. Ayadi
机构
[1] Centre de Biotechnologie de Sfax route Sidi Mansour,Unité Cibles pour le Diagnostic et la Thérapie
[2] Cabinet d’Endocrinologie,Laboratoire de Biochimie et de Génie Enzymatique des Lipases
[3] Ecole Nationale d’Ingénieurs de Sfax Route Soukra BP W,undefined
来源
Journal of Genetics | 2008年 / 87卷
关键词
gene; nephrogenic diabetes insipidus; mutation; structural modelling;
D O I
暂无
中图分类号
学科分类号
摘要
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页码:279 / 282
页数:3
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[1]  
Deen P. M.(1994)Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine Science 264 92-95
[2]  
Verdijk M. A.(2005)Molecular biology of hereditary diabetes insipidus J. Am. Soc. Nephrol. 16 2836-2846
[3]  
Knoers N. V.(2007)Characterisation of two novel missense mutations in the Nephron Physiol. 105 33-41
[4]  
Wieringa B.(1990) gene causing nephrogenic diabetes insipidus J. Natl. Cancer. Inst. 82 806-807
[5]  
Monnens L. A.(2005)Polymerase chain reaction and analysis of cancer cell markers PLoS. Genet. 1 171-178
[6]  
van Os C. H.(2002)Diabetes insipidus in mice with a mutation in Aquaporin-2 J. Am. Soc. Nephrol. 13 2267-2277
[7]  
Fujiwara T. M.(1998)Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus J. Clin. Invest. 102 57-66
[8]  
Bichet D. G.(2000)An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex Nature 407 599-605
[9]  
Iolascon A.(1995)Structural determinants of water permeation through aquaporin-1 Proc. Natl. Acad. Sci. USA 92 1013-1017
[10]  
Aglio V.(1992)Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane Nature 359 233-235