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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. Kuwahara M, et al. Among authors: bichet dg. Am J Hum Genet. 2001 Oct;69(4):738-48. doi: 10.1086/323643. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536078 Free PMC article.
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
Urinary excretion of aquaporin-2 in patients with diabetes insipidus.
Kanno K, Sasaki S, Hirata Y, Ishikawa S, Fushimi K, Nakanishi S, Bichet DG, Marumo F. Kanno K, et al. Among authors: bichet dg. N Engl J Med. 1995 Jun 8;332(23):1540-5. doi: 10.1056/NEJM199506083322303. N Engl J Med. 1995. PMID: 7537863 Free article.
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
Molecular biology of hereditary diabetes insipidus.
Fujiwara TM, Bichet DG. Fujiwara TM, et al. Among authors: bichet dg. J Am Soc Nephrol. 2005 Oct;16(10):2836-46. doi: 10.1681/ASN.2005040371. Epub 2005 Aug 10. J Am Soc Nephrol. 2005. PMID: 16093448 Review.
Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.
Guyon C, Lussier Y, Bissonnette P, Leduc-Nadeau A, Lonergan M, Arthus MF, Perez RB, Tiulpakov A, Lapointe JY, Bichet DG. Guyon C, et al. Among authors: bichet dg. Am J Physiol Renal Physiol. 2009 Aug;297(2):F489-98. doi: 10.1152/ajprenal.90589.2008. Epub 2009 May 20. Am J Physiol Renal Physiol. 2009. PMID: 19458121 Free PMC article.
251 results