Literature DB >> 1324225

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.

A M van den Ouweland1, M T Knoop, V V Knoers, P W Markslag, M Rocchi, S T Warren, H H Ropers, F Fahrenholz, L A Monnens, B A van Oost.   

Abstract

The gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) have both been localized in the Xqter region by genetic mapping and functional expression studies, respectively. In this paper genetic evidence that the DIR locus is localized distal to the DXS305 locus and that the functional gene for the V2 receptor is localized between the markers DXS269 and F8 is presented. These further refinements in the localization of both genes strengthen the assumption that both genes are identical and provide a rationale for cloning the gene by reversed genetics strategies.

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Year:  1992        PMID： 1324225     DOI： 10.1016/0888-7543(92)90067-3

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  6 in total

1.  A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.

Authors:  Akira Ashida; Daisuke Yamamoto; Hyogo Nakakura; Hideki Matsumura; Shinichi Uchida; Sei Sasaki; Hiroshi Tamai
Journal:  Pediatr Nephrol       Date:  2007-01-10       Impact factor: 3.714

2.  X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

Authors:  D G Bichet; M F Arthus; M Lonergan; G N Hendy; A J Paradis; T M Fujiwara; K Morgan; M C Gregory; W Rosenthal; A Didwania
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

3.  Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus.

Authors:  Reyhan El-Kares; Pierre-Alain Hueber; Miriam Blumenkrantz; Diana Iglesias; Kim Ma; Nada Jabado; Daniel G Bichet; Paul Goodyer
Journal:  Pediatr Nephrol       Date:  2009-03-18       Impact factor: 3.714

4.  X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.

Authors:  D G Bichet; G N Hendy; M Lonergan; M F Arthus; S Ligier; Z Pausova; R Kluge; H Zingg; P Saenger; E Oppenheimer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

5.  Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor.

Authors:  Anirut Pattaragarn; Uri S Alon
Journal:  Pediatr Nephrol       Date:  2003-07-18       Impact factor: 3.714

6.  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
  6 in total

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