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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: lonergan m. 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.
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. Leduc-Nadeau A, et al. Among authors: lonergan m. J Physiol. 2010 Jun 15;588(Pt 12):2205-18. doi: 10.1113/jphysiol.2010.187674. Epub 2010 Apr 19. J Physiol. 2010. PMID: 20403973 Free PMC 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: lonergan m. 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: lonergan m. 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
168 results