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147 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
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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
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  • 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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  • 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
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  • 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
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  • 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
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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. 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 15; 77(5):953-962. PubMed ID: 31302751
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  • 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 15; 16(10):2872-80. PubMed ID: 16120822
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  • 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 15; 12():686818. PubMed ID: 34177810
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  • 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 15; 279(4):F778-84. PubMed ID: 10997928
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  • 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 15; 174(10):1373-85. PubMed ID: 25902753
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  • 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 15; 8(2):242-8. PubMed ID: 9048343
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  • 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
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  • 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
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