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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. Marr N, et al. Among authors: bichet dg. J Am Soc Nephrol. 2002 Sep;13(9):2267-77. doi: 10.1097/01.asn.0000027355.41663.14. J Am Soc Nephrol. 2002. PMID: 12191971
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. de Mattia F, et al. Among authors: bichet dg. Hum Mol Genet. 2004 Dec 15;13(24):3045-56. doi: 10.1093/hmg/ddh339. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509592
Consequences of aquaporin 2 tetramerization for genetics and routing.
Kamsteeg EJ, Mulders SM, Bichet DG, Deen PM, van Os C. Kamsteeg EJ, et al. Among authors: bichet dg. Nephrol Dial Transplant. 2000;15 Suppl 6:26-8. doi: 10.1093/ndt/15.suppl_6.26. Nephrol Dial Transplant. 2000. PMID: 11143979 No abstract available.
Molecular biology of diabetes insipidus.
Fujiwara TM, Morgan K, Bichet DG. Fujiwara TM, et al. Among authors: bichet dg. Annu Rev Med. 1995;46:331-43. doi: 10.1146/annurev.med.46.1.331. Annu Rev Med. 1995. PMID: 7541187 Review.
251 results