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Journal Abstract Search

222 related items for PubMed ID: 19701945

  • 1. 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; 30(10):1387-96. PubMed ID: 19701945
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
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  • 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 01; 30(10):E891-903. PubMed ID: 19585583
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  • 6. 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
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  • 8. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 04; 13(2):96-104. PubMed ID: 16580609
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  • 9. 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 04; 27(12):4389-97. PubMed ID: 22778181
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  • 11. Aquaporin 2 mutations in nephrogenic diabetes insipidus.
    Loonen AJ, Knoers NV, van Os CH, Deen PM.
    Semin Nephrol; 2008 May 04; 28(3):252-65. PubMed ID: 18519086
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  • 12. Molecular and cellular defects in nephrogenic diabetes insipidus.
    Knoers NV, Deen PM.
    Pediatr Nephrol; 2001 Dec 04; 16(12):1146-52. PubMed ID: 11793119
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  • 13. 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
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  • 14. 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
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  • 15. 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
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  • 16. Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus.
    Boone M, Kortenoeven M, Robben JH, Deen PM.
    Nephrol Dial Transplant; 2010 Jan 01; 25(1):48-54. PubMed ID: 19666909
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  • 17. Methyl-beta-cyclodextrin induces vasopressin-independent apical accumulation of aquaporin-2 in the isolated, perfused rat kidney.
    Russo LM, McKee M, Brown D.
    Am J Physiol Renal Physiol; 2006 Jul 01; 291(1):F246-53. PubMed ID: 16449354
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  • 19. [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
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  • 20. 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
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