Literature DB >> 19147915

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

N Bougacha-Elleuch1, M Ben Lassoued, N Miled, S Zouari, H Ayadi.   

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Year:  2008        PMID： 19147915     DOI： 10.1007/s12041-008-0044-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  13 in total

Review 1.  Structure and function of aquaporin water channels.

Authors:  A S Verkman; A K Mitra
Journal:  Am J Physiol Renal Physiol       Date:  2000-01

Review 2.  Molecular biology of hereditary diabetes insipidus.

Authors:  T Mary Fujiwara; Daniel G Bichet
Journal:  J Am Soc Nephrol       Date:  2005-08-10       Impact factor: 10.121

3.  Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.

Authors:  W Rosenthal; A Seibold; A Antaramian; M Lonergan; M F Arthus; G N Hendy; M Birnbaumer; D G Bichet
Journal:  Nature       Date:  1992-09-17       Impact factor: 49.962

4.  Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

Authors:  P M Deen; M A Verdijk; N V Knoers; B Wieringa; L A Monnens; C H van Os; B A van Oost
Journal:  Science       Date:  1994-04-01       Impact factor: 47.728

5.  An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

Authors:  S M Mulders; D G Bichet; J P Rijss; E J Kamsteeg; M F Arthus; M Lonergan; M Fujiwara; K Morgan; R Leijendekker; P van der Sluijs; C H van Os; P M Deen
Journal:  J Clin Invest       Date:  1998-07-01       Impact factor: 14.808

6.  Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane.

Authors:  S Nielsen; C L Chou; D Marples; E I Christensen; B K Kishore; M A Knepper
Journal:  Proc Natl Acad Sci U S A       Date:  1995-02-14       Impact factor: 11.205

7.  Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

Authors:  Nannette Marr; Daniel G Bichet; Susan Hoefs; Paul J M Savelkoul; Irene B M Konings; Fabrizio De Mattia; Michael P J Graat; Marie-Françoise Arthus; Michele Lonergan; T Mary Fujiwara; Nine V A M Knoers; Daniel Landau; William J Balfe; Alexander Oksche; Walter Rosenthal; Dominik Müller; Carel H Van Os; Peter M T Deen
Journal:  J Am Soc Nephrol       Date:  2002-09       Impact factor: 10.121

8.  Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Authors:  A F van Lieburg; M A Verdijk; V V Knoers; A J van Essen; W Proesmans; R Mallmann; L A Monnens; B A van Oost; C H van Os; P M Deen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

9.  Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.

Authors:  Achille Iolascon; Veruska Aglio; Grazia Tamma; Maria D'Apolito; Francesco Addabbo; Giuseppe Procino; Maria Carmela Simonetti; Giovanni Montini; Loreto Gesualdo; Erik W Debler; Maria Svelto; Giovanna Valenti
Journal:  Nephron Physiol       Date:  2006-12-28

10.  Diabetes insipidus in mice with a mutation in aquaporin-2.

Authors:  David J Lloyd; Frank Wesley Hall; Lisa M Tarantino; Nicholas Gekakis
Journal:  PLoS Genet       Date:  2005-08-19       Impact factor: 5.917
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