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181 related items for PubMed ID: 34120413

  • 1. Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
    Bissonnette P, Lussier Y, Matar J, Leduc-Nadeau A, Da Cal S, Arthus MF, Unwin RJ, Steinke J, Rangaswamy D, Bichet DG.
    Physiol Rep; 2021 Jun; 9(11):e14866. PubMed ID: 34120413
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
    El Tarazi A, Lussier Y, Da Cal S, Bissonnette P, Bichet DG.
    Sci Rep; 2016 Sep 19; 6():33298. PubMed ID: 27641679
    [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. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
    Savelkoul PJ, De Mattia F, Li Y, Kamsteeg EJ, Konings IB, van der Sluijs P, Deen PM.
    Hum Mutat; 2009 Oct 15; 30(10):E891-903. PubMed ID: 19585583
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 13(9):2267-77. PubMed ID: 12191971
    [Abstract] [Full Text] [Related]

  • 7. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.
    Guyon C, Lussier Y, Bissonnette P, Leduc-Nadeau A, Lonergan M, Arthus MF, Perez RB, Tiulpakov A, Lapointe JY, Bichet DG.
    Am J Physiol Renal Physiol; 2009 Aug 15; 297(2):F489-98. PubMed ID: 19458121
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 04; 69(4):738-48. PubMed ID: 11536078
    [Abstract] [Full Text] [Related]

  • 10. Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
    Saglar Ozer E, Moeller HB, Karaduman T, Fenton RA, Mergen H.
    Cell Mol Life Sci; 2020 Mar 04; 77(5):953-962. PubMed ID: 31302751
    [Abstract] [Full Text] [Related]

  • 11. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
    de Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM.
    J Am Soc Nephrol; 2005 Oct 04; 16(10):2872-80. PubMed ID: 16120822
    [Abstract] [Full Text] [Related]

  • 12. Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
    Li Q, Tian D, Cen J, Duan L, Xia W.
    Front Endocrinol (Lausanne); 2021 Oct 04; 12():686818. PubMed ID: 34177810
    [Abstract] [Full Text] [Related]

  • 13. 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 04; 279(4):F778-84. PubMed ID: 10997928
    [Abstract] [Full Text] [Related]

  • 14. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
    Sasaki S, Chiga M, Kikuchi E, Rai T, Uchida S.
    Clin Exp Nephrol; 2013 Jun 04; 17(3):338-44. PubMed ID: 23150186
    [Abstract] [Full Text] [Related]

  • 15. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
    Bichet DG, Bockenhauer D.
    Best Pract Res Clin Endocrinol Metab; 2016 Mar 04; 30(2):263-76. PubMed ID: 27156763
    [Abstract] [Full Text] [Related]

  • 16. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
    García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G, RenalTube Group.
    Eur J Pediatr; 2015 Oct 04; 174(10):1373-85. PubMed ID: 25902753
    [Abstract] [Full Text] [Related]

  • 17. 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 04; 8(2):242-8. PubMed ID: 9048343
    [Abstract] [Full Text] [Related]

  • 18. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
    Gao C, Higgins PJ, Zhang W.
    Cells; 2020 Sep 26; 9(10):. PubMed ID: 32993088
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
    Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM.
    J Clin Invest; 1998 Jul 01; 102(1):57-66. PubMed ID: 9649557
    [Abstract] [Full Text] [Related]

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