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180 related items for PubMed ID: 31302751

  • 1. 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; 77(5):953-962. PubMed ID: 31302751
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  • 2. 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 Mar; 12():665145. PubMed ID: 34512542
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  • 5. Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.
    Shi PP, Cao XR, Qu J, Volk KA, Kirby P, Williamson RA, Stokes JB, Yang B.
    Am J Physiol Renal Physiol; 2007 May; 292(5):F1334-44. PubMed ID: 17229678
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  • 6. 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; 442(1):73-7. PubMed ID: 11374071
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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. 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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  • 11. 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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  • 12. 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 26; 69(4):738-48. PubMed ID: 11536078
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  • 16. Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.
    Buck TM, Eledge J, Skach WR.
    Am J Physiol Cell Physiol; 2004 Nov 26; 287(5):C1292-9. PubMed ID: 15253895
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  • 19. 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 26; 279(4):F778-84. PubMed ID: 10997928
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  • 20. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones.
    Tamarappoo BK, Verkman AS.
    J Clin Invest; 1998 May 15; 101(10):2257-67. PubMed ID: 9593782
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