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Journal Abstract Search

384 related items for PubMed ID: 7537761

  • 1. 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; 95(5):2291-6. PubMed ID: 7537761
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  • 2. 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; 8(2):242-8. PubMed ID: 9048343
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  • 3. 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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  • 4. 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 04; 13(9):2267-77. PubMed ID: 12191971
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  • 5. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
    Tamarappoo BK, Verkman AS.
    J Clin Invest; 1998 May 15; 101(10):2257-67. PubMed ID: 9593782
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  • 6. 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]

  • 7. 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 01; 6(11):1865-71. PubMed ID: 9302264
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  • 8. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
    Kuwahara M.
    Intern Med; 1998 Feb 01; 37(2):215-7. PubMed ID: 9550615
    [Abstract] [Full Text] [Related]

  • 9. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
    van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM.
    Am J Hum Genet; 1994 Oct 01; 55(4):648-52. PubMed ID: 7524315
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  • 10. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.
    Kuwahara M, Iwai K, Ooeda T, Igarashi T, Ogawa E, Katsushima Y, Shinbo I, Uchida S, Terada Y, Arthus MF, Lonergan M, Fujiwara TM, Bichet DG, Marumo F, Sasaki S.
    Am J Hum Genet; 2001 Oct 01; 69(4):738-48. PubMed ID: 11536078
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  • 11. 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 01; 442(1):73-7. PubMed ID: 11374071
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  • 15. Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes.
    Mulders SM, Rijss JP, Hartog A, Bindels RJ, van Os CH, Deen PM.
    Am J Physiol; 1997 Sep 01; 273(3 Pt 2):F451-6. PubMed ID: 9321919
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  • 17. 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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  • 18. The molecular basis of nephrogenic diabetes insipidus.
    Oksche A, Rosenthal W.
    J Mol Med (Berl); 1998 Apr 01; 76(5):326-37. PubMed ID: 9587067
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  • 19. 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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