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Journal Abstract Search

219 related items for PubMed ID: 21917732

  • 1. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
    Böselt I, Tramma D, Kalamitsou S, Niemeyer T, Nykänen P, Gräf KJ, Krude H, Marenzi KS, Di Candia S, Schöneberg T, Schulz A.
    Nephrol Dial Transplant; 2012 Apr; 27(4):1521-8. PubMed ID: 21917732
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  • 2. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
    Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.
    J Hum Genet; 2002 Apr; 47(2):66-73. PubMed ID: 11916004
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  • 3. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
    Spanakis E, Milord E, Gragnoli C.
    J Cell Physiol; 2008 Dec; 217(3):605-17. PubMed ID: 18726898
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  • 4. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
    Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA.
    Metabolism; 2012 Jul; 61(7):922-30. PubMed ID: 22386940
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  • 8. AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
    Wildin RS, Cogdell DE, Valadez V.
    Kidney Int; 1998 Dec; 54(6):1909-22. PubMed ID: 9853256
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  • 9. Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor function.
    Sangkuhl K, Römpler H, Busch W, Karges B, Schöneberg T.
    Hum Mutat; 2005 May; 25(5):505. PubMed ID: 15841479
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  • 10. Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide.
    Schoneberg T, Yun J, Wenkert D, Wess J.
    EMBO J; 1996 Mar 15; 15(6):1283-91. PubMed ID: 8635461
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  • 11. [Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
    Gu F, Shi Y, Deng J, Jin Z.
    Zhonghua Yi Xue Za Zhi; 2002 Oct 25; 82(20):1401-5. PubMed ID: 12509923
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  • 12. Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
    Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T.
    J Clin Endocrinol Metab; 2000 Apr 25; 85(4):1703-10. PubMed ID: 10770218
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  • 14. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model.
    Robben JH, Knoers NV, Deen PM.
    Am J Physiol Renal Physiol; 2005 Aug 25; 289(2):F265-72. PubMed ID: 16006591
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  • 15. Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.
    Boson WL, Della Manna T, Damiani D, Miranda DM, Gadelha MR, Liberman B, Correa H, Romano-Silva MA, Friedman E, Silva FF, Ribeiro PA, De Marco L.
    Genet Test; 2006 Aug 25; 10(3):157-62. PubMed ID: 17020465
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  • 16. V2R mutations and nephrogenic diabetes insipidus.
    Bichet DG.
    Prog Mol Biol Transl Sci; 2009 Aug 25; 89():15-29. PubMed ID: 20374732
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  • 17. Nephrogenic diabetes insipidus.
    Bichet DG.
    Adv Chronic Kidney Dis; 2006 Apr 25; 13(2):96-104. PubMed ID: 16580609
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  • 18. Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.
    Morello JP, Salahpour A, Petäjä-Repo UE, Laperrière A, Lonergan M, Arthus MF, Nabi IR, Bichet DG, Bouvier M.
    Biochemistry; 2001 Jun 12; 40(23):6766-75. PubMed ID: 11389590
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