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Journal Abstract Search

205 related items for PubMed ID: 12787389

  • 21. 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]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane.
    Deen PM, Van Balkom BW, Savelkoul PJ, Kamsteeg EJ, Van Raak M, Jennings ML, Muth TR, Rajendran V, Caplan MJ.
    Am J Physiol Renal Physiol; 2002 Feb; 282(2):F330-40. PubMed ID: 11788448
    [Abstract] [Full Text] [Related]

  • 24. Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.
    Li Q, Lu B, Yang J, Li C, Li Y, Chen H, Li N, Duan L, Gu F, Zhang J, Xia W.
    Front Endocrinol (Lausanne); 2021 Feb; 12():665145. PubMed ID: 34512542
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. 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 26; 279(4):F778-84. PubMed ID: 10997928
    [Abstract] [Full Text] [Related]

  • 27. Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.
    Dollerup P, Thomsen TM, Nejsum LN, Færch M, Österbrand M, Gregersen N, Rittig S, Christensen JH, Corydon TJ.
    BMC Nephrol; 2015 Dec 29; 16():217. PubMed ID: 26714855
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
    Kamsteeg EJ, Savelkoul PJ, Hendriks G, Konings IB, Nivillac NM, Lagendijk AK, van der Sluijs P, Deen PM.
    Pflugers Arch; 2008 Mar 06; 455(6):1041-54. PubMed ID: 17965877
    [Abstract] [Full Text] [Related]

  • 30. Role of cytoplasmic termini in sorting and shuttling of the aquaporin-2 water channel.
    van Balkom BW, Graat MP, van Raak M, Hofman E, van der Sluijs P, Deen PM.
    Am J Physiol Cell Physiol; 2004 Feb 06; 286(2):C372-9. PubMed ID: 14561591
    [Abstract] [Full Text] [Related]

  • 31. Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells.
    Yamauchi K, Fushimi K, Yamashita Y, Shinbo I, Sasaki S, Marumo F.
    Kidney Int; 1999 Jul 06; 56(1):164-71. PubMed ID: 10411689
    [Abstract] [Full Text] [Related]

  • 32. 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 06; 30(10):1387-96. PubMed ID: 19701945
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. [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
    [Abstract] [Full Text] [Related]

  • 35. Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.
    Shi PP, Cao XR, Qu J, Volk KA, Kirby P, Williamson RA, Stokes JB, Yang B.
    Am J Physiol Renal Physiol; 2007 May 09; 292(5):F1334-44. PubMed ID: 17229678
    [Abstract] [Full Text] [Related]

  • 36. The C-terminal tail of aquaporin-2 determines apical trafficking.
    Kuwahara M, Asai T, Terada Y, Sasaki S.
    Kidney Int; 2005 Nov 09; 68(5):1999-2009. PubMed ID: 16221200
    [Abstract] [Full Text] [Related]

  • 37. Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.
    Yang B, Zhao D, Verkman AS.
    FASEB J; 2009 Feb 09; 23(2):503-12. PubMed ID: 18854434
    [Abstract] [Full Text] [Related]

  • 38.
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  • 39. Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
    Tamarappoo BK, Yang B, Verkman AS.
    J Biol Chem; 1999 Dec 03; 274(49):34825-31. PubMed ID: 10574954
    [Abstract] [Full Text] [Related]

  • 40. 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 03; 163(1):111-20. PubMed ID: 12819016
    [Abstract] [Full Text] [Related]

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