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420 related items for PubMed ID: 15509592

  • 1. A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
    de Mattia F, Savelkoul PJ, Bichet DG, Kamsteeg EJ, Konings IB, Marr N, Arthus MF, Lonergan M, van Os CH, van der Sluijs P, Robertson G, Deen PM.
    Hum Mol Genet; 2004 Dec 15; 13(24):3045-56. PubMed ID: 15509592
    [Abstract] [Full Text] [Related]

  • 2. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
    Kamsteeg EJ, Wormhoudt TA, Rijss JP, van Os CH, Deen PM.
    EMBO J; 1999 May 04; 18(9):2394-400. PubMed ID: 10228154
    [Abstract] [Full Text] [Related]

  • 3. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
    de Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM.
    J Am Soc Nephrol; 2005 Oct 04; 16(10):2872-80. PubMed ID: 16120822
    [Abstract] [Full Text] [Related]

  • 4. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
    Savelkoul PJ, De Mattia F, Li Y, Kamsteeg EJ, Konings IB, van der Sluijs P, Deen PM.
    Hum Mutat; 2009 Oct 04; 30(10):E891-903. PubMed ID: 19585583
    [Abstract] [Full Text] [Related]

  • 5. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
    Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM.
    J Clin Invest; 1998 Jul 01; 102(1):57-66. PubMed ID: 9649557
    [Abstract] [Full Text] [Related]

  • 6. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus.
    Trimpert C, van den Berg DT, Fenton RA, Klussmann E, Deen PM.
    Nephrol Dial Transplant; 2012 Dec 01; 27(12):4389-97. PubMed ID: 22778181
    [Abstract] [Full Text] [Related]

  • 7. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Stoffels M, Tamma G, Konings IB, Deen PM.
    Hum Mutat; 2009 Oct 01; 30(10):1387-96. PubMed ID: 19701945
    [Abstract] [Full Text] [Related]

  • 8. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
    Marr N, Bichet DG, Lonergan M, Arthus MF, Jeck N, Seyberth HW, Rosenthal W, van Os CH, Oksche A, Deen PM.
    Hum Mol Genet; 2002 Apr 01; 11(7):779-89. PubMed ID: 11929850
    [Abstract] [Full Text] [Related]

  • 9. Molecular and cellular defects in nephrogenic diabetes insipidus.
    Knoers NV, Deen PM.
    Pediatr Nephrol; 2001 Dec 01; 16(12):1146-52. PubMed ID: 11793119
    [Abstract] [Full Text] [Related]

  • 10. Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity.
    Kamsteeg EJ, Deen PM.
    Biochem Biophys Res Commun; 2001 Apr 06; 282(3):683-90. PubMed ID: 11401515
    [Abstract] [Full Text] [Related]

  • 11. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
    Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM.
    J Am Soc Nephrol; 2002 Sep 06; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 12. cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus.
    Yang B, Ma T, Xu Z, Verkman AS.
    Genomics; 1999 Apr 01; 57(1):79-83. PubMed ID: 10191086
    [Abstract] [Full Text] [Related]

  • 13. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
    Kamsteeg EJ, Bichet DG, Konings IB, Nivet H, Lonergan M, Arthus MF, van Os CH, Deen PM.
    J Cell Biol; 2003 Dec 08; 163(5):1099-109. PubMed ID: 14662748
    [Abstract] [Full Text] [Related]

  • 14. [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus].
    Knoers NV, Deen PM.
    Ned Tijdschr Geneeskd; 2000 Dec 09; 144(50):2402-4. PubMed ID: 11145096
    [Abstract] [Full Text] [Related]

  • 15. Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
    Marr N, Kamsteeg EJ, van Raak M, van Os CH, Deen PM.
    Pflugers Arch; 2001 Apr 09; 442(1):73-7. PubMed ID: 11374071
    [Abstract] [Full Text] [Related]

  • 16. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM, van Os CH.
    Exp Nephrol; 2000 Apr 09; 8(6):326-31. PubMed ID: 11014929
    [Abstract] [Full Text] [Related]

  • 17. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
    Kuwahara M.
    Intern Med; 1998 Feb 09; 37(2):215-7. PubMed ID: 9550615
    [Abstract] [Full Text] [Related]

  • 18. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM.
    Am J Physiol Renal Physiol; 2000 Oct 09; 279(4):F778-84. PubMed ID: 10997928
    [Abstract] [Full Text] [Related]

  • 19. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
    Leduc-Nadeau A, Lussier Y, Arthus MF, Lonergan M, Martinez-Aguayo A, Riveira-Munoz E, Devuyst O, Bissonnette P, Bichet DG.
    J Physiol; 2010 Jun 15; 588(Pt 12):2205-18. PubMed ID: 20403973
    [Abstract] [Full Text] [Related]

  • 20. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 15; 13(2):96-104. PubMed ID: 16580609
    [Abstract] [Full Text] [Related]

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