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Journal Abstract Search


158 related items for PubMed ID: 9550615

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

  • 2. Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
    Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S.
    J Clin Endocrinol Metab; 1998 Sep; 83(9):3205-9. PubMed ID: 9745427
    [Abstract] [Full Text] [Related]

  • 3. 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; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 15; 8(2):242-8. PubMed ID: 9048343
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 55(4):648-52. PubMed ID: 7524315
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 95(5):2291-6. PubMed ID: 7537761
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 6(11):1865-71. PubMed ID: 9302264
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 69(4):738-48. PubMed ID: 11536078
    [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]

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  • 16. 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 08; 442(1):73-7. PubMed ID: 11374071
    [Abstract] [Full Text] [Related]

  • 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 08; 279(4):F778-84. PubMed ID: 10997928
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.
    Kamsteeg EJ, Deen PM, van Os CH.
    Exp Nephrol; 2000 Apr 01; 8(6):326-31. PubMed ID: 11014929
    [Abstract] [Full Text] [Related]

  • 20. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.
    Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA.
    Science; 1994 Apr 01; 264(5155):92-5. PubMed ID: 8140421
    [Abstract] [Full Text] [Related]


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