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181 related items for PubMed ID: 34120413

  • 21. 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; 442(1):73-7. PubMed ID: 11374071
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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]

  • 24. 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]

  • 25. Dynamics and energetics of water transport through aquaporin mutants causing nephrogenic diabetes insipidus (NDI): A molecular dynamics study.
    Hadidi H, Kamali R, Binesh A.
    J Biomol Struct Dyn; 2022 Feb 08; 40(3):1273-1284. PubMed ID: 33030091
    [Abstract] [Full Text] [Related]

  • 26. 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 08; 55(4):648-52. PubMed ID: 7524315
    [Abstract] [Full Text] [Related]

  • 27. 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 08; 83(9):3205-9. PubMed ID: 9745427
    [Abstract] [Full Text] [Related]

  • 28. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus.
    Trimpert C, van den Berg DT, Fenton RA, Klussmann E, Deen PM.
    Nephrol Dial Transplant; 2012 Dec 08; 27(12):4389-97. PubMed ID: 22778181
    [Abstract] [Full Text] [Related]

  • 29. 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 08; 30(10):1387-96. PubMed ID: 19701945
    [Abstract] [Full Text] [Related]

  • 30. 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 Oct 08; 12():665145. PubMed ID: 34512542
    [Abstract] [Full Text] [Related]

  • 31. 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 08; 292(5):F1334-44. PubMed ID: 17229678
    [Abstract] [Full Text] [Related]

  • 32. 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]

  • 33. Aquaporin 2 mutations in nephrogenic diabetes insipidus.
    Loonen AJ, Knoers NV, van Os CH, Deen PM.
    Semin Nephrol; 2008 May 29; 28(3):252-65. PubMed ID: 18519086
    [Abstract] [Full Text] [Related]

  • 34. Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation.
    Sohara E, Rai T, Yang SS, Uchida K, Nitta K, Horita S, Ohno M, Harada A, Sasaki S, Uchida S.
    Proc Natl Acad Sci U S A; 2006 Sep 19; 103(38):14217-22. PubMed ID: 16968783
    [Abstract] [Full Text] [Related]

  • 35. 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 19; 23(2):503-12. PubMed ID: 18854434
    [Abstract] [Full Text] [Related]

  • 36. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus.
    Kuwahara M.
    Intern Med; 1998 Feb 19; 37(2):215-7. PubMed ID: 9550615
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. 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 06; 95(5):2291-6. PubMed ID: 7537761
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.
    Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.
    J Pediatr Endocrinol Metab; 2014 Jan 01; 27(1-2):193-7. PubMed ID: 23950570
    [Abstract] [Full Text] [Related]

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