Literature DB >> 8479490

Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.

E J Holtzman1, H W Harris, L F Kolakowski, L M Guay-Woodford, B Botelho, D A Ausiello.   

Abstract

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Year:  1993        PMID： 8479490     DOI： 10.1056/NEJM199305273282105

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  11 in total

1.  Induction of aquaporin-1 mRNA following cardiopulmonary bypass and reperfusion.

Authors:  S Tabbutt; D P Nelson; N Tsai; T Miura; P R Hickey; J E Mayer; E J Neufeld
Journal:  Mol Med       Date:  1997-09       Impact factor: 6.354

Review 2.  The long-term complications of the inherited tubulopathies: an adult perspective.

Authors:  Maryam Khosravi; Stephen B Walsh
Journal:  Pediatr Nephrol       Date:  2014-02-25       Impact factor: 3.714

3.  Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene.

Authors:  J Yun; T Schöneberg; J Liu; A Schulz; C A Ecelbarger; D Promeneur; S Nielsen; H Sheng; A Grinberg; C Deng; J Wess
Journal:  J Clin Invest       Date:  2000-12       Impact factor: 14.808

Review 4.  Abnormalities in G protein-coupled signal transduction pathways in human disease.

Authors:  A M Spiegel; L S Weinstein; A Shenker
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

Review 5.  Molecular biology and its application in paediatric endocrinology.

Authors:  P E Mullis; J K Wagner
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

6.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

7.  Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

Authors:  D G Bichet; M Birnbaumer; M Lonergan; M F Arthus; W Rosenthal; P Goodyer; H Nivet; S Benoit; P Giampietro; S Simonetti
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

8.  Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.

Authors:  E Friedman; A E Bale; E Carson; W L Boson; M Nordenskjöld; M Ritzén; P C Ferreira; A Jammal; L De Marco
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-30       Impact factor: 11.205

9.  Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.

Authors:  H Tsukaguchi; H Matsubara; S Taketani; Y Mori; T Seido; M Inada
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808

10.  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
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