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Journal Abstract Search


163 related items for PubMed ID: 11014929

  • 1. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM, van Os CH.
    Exp Nephrol; 2000; 8(6):326-31. PubMed ID: 11014929
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  • 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
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  • 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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  • 4. 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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  • 5. 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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  • 7. 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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  • 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 08; 279(4):F778-84. PubMed ID: 10997928
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  • 11. The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus.
    Hirano K, Zuber C, Roth J, Ziak M.
    Am J Pathol; 2003 Jul 08; 163(1):111-20. PubMed ID: 12819016
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  • 12. Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations.
    Asai T, Kuwahara M, Kurihara H, Sakai T, Terada Y, Marumo F, Sasaki S.
    Kidney Int; 2003 Jul 08; 64(1):2-10. PubMed ID: 12787389
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  • 14. 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 08; 95(5):2291-6. PubMed ID: 7537761
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  • 16. Molecular and cellular defects in nephrogenic diabetes insipidus.
    Knoers NV, Deen PM.
    Pediatr Nephrol; 2001 Dec 08; 16(12):1146-52. PubMed ID: 11793119
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  • 18. Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus.
    Yang B, Gillespie A, Carlson EJ, Epstein CJ, Verkman AS.
    J Biol Chem; 2001 Jan 26; 276(4):2775-9. PubMed ID: 11035038
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  • 20. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response.
    Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ.
    Hum Mol Genet; 1997 Oct 26; 6(11):1865-71. PubMed ID: 9302264
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