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Journal Abstract Search

268 related items for PubMed ID: 10228154

  • 1.
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  • 2. 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]

  • 3. 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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  • 5. 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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  • 7. 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 06; 30(10):E891-903. PubMed ID: 19585583
    [Abstract] [Full Text] [Related]

  • 8. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM, van Os CH.
    Exp Nephrol; 2000 Oct 06; 8(6):326-31. PubMed ID: 11014929
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  • 9. 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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  • 10. 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 01; 279(4):F778-84. PubMed ID: 10997928
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  • 11. Molecular and cellular defects in nephrogenic diabetes insipidus.
    Knoers NV, Deen PM.
    Pediatr Nephrol; 2001 Dec 01; 16(12):1146-52. PubMed ID: 11793119
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  • 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
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  • 13. 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 01; 13(9):2267-77. PubMed ID: 12191971
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  • 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
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  • 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
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  • 16. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.
    Deen PM, Croes H, van Aubel RA, Ginsel LA, van Os CH.
    J Clin Invest; 1995 May 09; 95(5):2291-6. PubMed ID: 7537761
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  • 18. 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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  • 19. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
    Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM.
    J Am Soc Nephrol; 1997 Feb 08; 8(2):242-8. PubMed ID: 9048343
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  • 20. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 08; 13(2):96-104. PubMed ID: 16580609
    [Abstract] [Full Text] [Related]

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