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Journal Abstract Search

221 related items for PubMed ID: 19458121

  • 1.
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  • 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
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  • 5. Stimulating effect of external Myo-inositol on the expression of mutant forms of aquaporin 2.
    Lussier Y, Bissonnette P, Bichet DG, Lapointe JY.
    J Membr Biol; 2010 Jul 19; 236(2):225-32. PubMed ID: 20711567
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  • 6. 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 Jul 19; 12():665145. PubMed ID: 34512542
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  • 8. 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
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  • 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 15; 69(4):738-48. PubMed ID: 11536078
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  • 10. 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 15; 279(4):F778-84. PubMed ID: 10997928
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  • 11. 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
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  • 12. 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
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  • 13. 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 08; 9(11):e14866. PubMed ID: 34120413
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  • 14. 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 08; 442(1):73-7. PubMed ID: 11374071
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  • 15. 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
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  • 16. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.
    Boccalandro C, De Mattia F, Guo DC, Xue L, Orlander P, King TM, Gupta P, Deen PM, Lavis VR, Milewicz DM.
    J Am Soc Nephrol; 2004 May 04; 15(5):1223-31. PubMed ID: 15100362
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  • 17. 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
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  • 18. 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 04; 30(10):E891-903. PubMed ID: 19585583
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  • 19. 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 04; 30(10):1387-96. PubMed ID: 19701945
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  • 20. 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 04; 455(6):1041-54. PubMed ID: 17965877
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