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161 related items for PubMed ID: 33030091
1. Dynamics and energetics of water transport through aquaporin mutants causing nephrogenic diabetes insipidus (NDI): A molecular dynamics study. Hadidi H, Kamali R, Binesh A. J Biomol Struct Dyn; 2022 Feb; 40(3):1273-1284. PubMed ID: 33030091 [Abstract] [Full Text] [Related]
7. 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; 13(9):2267-77. PubMed ID: 12191971 [Abstract] [Full Text] [Related]
9. 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]
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; 77(5):953-962. PubMed ID: 31302751 [Abstract] [Full Text] [Related]
12. 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; 30(10):E891-903. PubMed ID: 19585583 [Abstract] [Full Text] [Related]
13. 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]
15. 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]
16. 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 Dec 15; 12():686818. PubMed ID: 34177810 [Abstract] [Full Text] [Related]