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Journal Abstract Search
199 related items for PubMed ID: 10564236
1. Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression. Shinbo I, Fushimi K, Kasahara M, Yamauchi K, Sasaki S, Marumo F. Am J Physiol; 1999 Nov; 277(5):F734-41. PubMed ID: 10564236 [Abstract] [Full Text] [Related]
2. 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 [Abstract] [Full Text] [Related]
3. 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 [Abstract] [Full Text] [Related]
5. 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]
6. 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 15; 13(9):2267-77. PubMed ID: 12191971 [Abstract] [Full Text] [Related]
7. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. Kamsteeg EJ, Wormhoudt TA, Rijss JP, van Os CH, Deen PM. EMBO J; 1999 May 04; 18(9):2394-400. PubMed ID: 10228154 [Abstract] [Full Text] [Related]
8. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ. Hum Mol Genet; 1997 Oct 04; 6(11):1865-71. PubMed ID: 9302264 [Abstract] [Full Text] [Related]
9. 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 04; 279(4):F778-84. PubMed ID: 10997928 [Abstract] [Full Text] [Related]
10. 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 04; 69(4):738-48. PubMed ID: 11536078 [Abstract] [Full Text] [Related]
11. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM. J Am Soc Nephrol; 1997 Feb 04; 8(2):242-8. PubMed ID: 9048343 [Abstract] [Full Text] [Related]
12. 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 [Abstract] [Full Text] [Related]
13. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM. J Clin Invest; 1998 Jul 01; 102(1):57-66. PubMed ID: 9649557 [Abstract] [Full Text] [Related]
17. Diffusion in the endoplasmic reticulum of an aquaporin-2 mutant causing human nephrogenic diabetes insipidus. Levin MH, Haggie PM, Vetrivel L, Verkman AS. J Biol Chem; 2001 Jun 15; 276(24):21331-6. PubMed ID: 11297561 [Abstract] [Full Text] [Related]
18. Defective processing and trafficking of water channels in nephrogenic diabetes insipidus. Kamsteeg EJ, Deen PM, van Os CH. Exp Nephrol; 2000 Jun 15; 8(6):326-31. PubMed ID: 11014929 [Abstract] [Full Text] [Related]
19. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus. Kamsteeg EJ, Bichet DG, Konings IB, Nivet H, Lonergan M, Arthus MF, van Os CH, Deen PM. J Cell Biol; 2003 Dec 08; 163(5):1099-109. PubMed ID: 14662748 [Abstract] [Full Text] [Related]
20. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus. Trimpert C, van den Berg DT, Fenton RA, Klussmann E, Deen PM. Nephrol Dial Transplant; 2012 Dec 08; 27(12):4389-97. PubMed ID: 22778181 [Abstract] [Full Text] [Related] Page: [Next] [New Search]