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268 related items for PubMed ID: 7984150

  • 1. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system.
    Birnbaumer M, Gilbert S, Rosenthal W.
    Mol Endocrinol; 1994 Jul; 8(7):886-94. PubMed ID: 7984150
    [Abstract] [Full Text] [Related]

  • 2. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
    Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M.
    Mol Endocrinol; 1997 Nov; 11(12):1806-13. PubMed ID: 9369448
    [Abstract] [Full Text] [Related]

  • 3. An X-linked NDI mutation reveals a requirement for cell surface V2R expression.
    Sadeghi HM, Innamorati G, Birnbaumer M.
    Mol Endocrinol; 1997 Jun; 11(6):706-13. PubMed ID: 9171234
    [Abstract] [Full Text] [Related]

  • 4. Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.
    Cheong HI, Cho HY, Park HW, Ha IS, Choi Y.
    Nephrology (Carlton); 2007 Apr; 12(2):113-7. PubMed ID: 17371330
    [Abstract] [Full Text] [Related]

  • 5. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function.
    Oksche A, Schülein R, Rutz C, Liebenhoff U, Dickson J, Müller H, Birnbaumer M, Rosenthal W.
    Mol Pharmacol; 1996 Oct; 50(4):820-8. PubMed ID: 8863826
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
    Faerch M, Christensen JH, Rittig S, Johansson JO, Gregersen N, de Zegher F, Corydon TJ.
    Am J Physiol Renal Physiol; 2009 Dec 15; 297(6):F1518-25. PubMed ID: 19812297
    [Abstract] [Full Text] [Related]

  • 8. The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus.
    Inaba S, Hatakeyama H, Taniguchi N, Miyamori I.
    J Clin Endocrinol Metab; 2001 Jan 15; 86(1):381-5. PubMed ID: 11232028
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 289(2):F265-72. PubMed ID: 16006591
    [Abstract] [Full Text] [Related]

  • 10. Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus.
    Postina R, Ufer E, Pfeiffer R, Knoers NV, Fahrenholz F.
    Mol Cell Endocrinol; 2000 Jun 15; 164(1-2):31-9. PubMed ID: 11026555
    [Abstract] [Full Text] [Related]

  • 11. A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
    Yokoyama K, Yamauchi A, Izumi M, Itoh T, Ando A, Imai E, Kamada T, Ueda N.
    J Am Soc Nephrol; 1996 Mar 15; 7(3):410-4. PubMed ID: 8704106
    [Abstract] [Full Text] [Related]

  • 12. Properties of the human arginine vasopressin V2 receptor after site-directed mutagenesis of its putative palmitoylation site.
    Schülein R, Liebenhoff U, Müller H, Birnbaumer M, Rosenthal W.
    Biochem J; 1996 Jan 15; 313 ( Pt 2)(Pt 2):611-6. PubMed ID: 8573100
    [Abstract] [Full Text] [Related]

  • 13. Two vasopressin type 2 receptor gene mutations R143P and delta V278 in patients with nephrogenic diabetes insipidus impair ligand binding of the receptor.
    Tsukaguchi H, Matsubara H, Mori Y, Yoshimasa Y, Yoshimasa T, Nakao K, Inada M.
    Biochem Biophys Res Commun; 1995 Jun 26; 211(3):967-77. PubMed ID: 7598729
    [Abstract] [Full Text] [Related]

  • 14. Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
    Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M.
    J Biol Chem; 1993 Jun 25; 268(18):13030-3. PubMed ID: 8514744
    [Abstract] [Full Text] [Related]

  • 15. The role of conserved extracellular cysteine residues in vasopressin V2 receptor function and properties of two naturally occurring mutant receptors with additional extracellular cysteine residues.
    Schülein R, Zühlke K, Oksche A, Hermosilla R, Furkert J, Rosenthal W.
    FEBS Lett; 2000 Jan 21; 466(1):101-6. PubMed ID: 10648821
    [Abstract] [Full Text] [Related]

  • 16. Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).
    Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD.
    PLoS One; 2013 Jan 21; 8(6):e65885. PubMed ID: 23762448
    [Abstract] [Full Text] [Related]

  • 17. Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.
    Rosenthal W, Seibold A, Antaramian A, Gilbert S, Birnbaumer M, Bichet DG, Arthus MF, Lonergan M.
    Cell Mol Biol (Noisy-le-grand); 1994 May 21; 40(3):429-36. PubMed ID: 7920187
    [Abstract] [Full Text] [Related]

  • 18. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
    Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M.
    J Clin Invest; 1995 Oct 21; 96(4):2043-50. PubMed ID: 7560098
    [Abstract] [Full Text] [Related]

  • 19. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
    Schöneberg T, Schulz A, Biebermann H, Grüters A, Grimm T, Hübschmann K, Filler G, Gudermann T, Schultz G.
    Hum Mutat; 1998 Oct 21; 12(3):196-205. PubMed ID: 9711877
    [Abstract] [Full Text] [Related]

  • 20. Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
    Bockenhauer D, Carpentier E, Rochdi D, van't Hoff W, Breton B, Bernier V, Bouvier M, Bichet DG.
    Nephron Physiol; 2010 Oct 21; 114(1):p1-10. PubMed ID: 19816050
    [Abstract] [Full Text] [Related]

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