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References

These sources were used to develop the Genetics Home Reference gene summary on the AQP2 gene.

Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science. 1994 Apr 1;264(5155):92-5. PubMed citation
Entrez Gene
Knoers NV, Deen PM. Molecular and cellular defects in nephrogenic diabetes insipidus. Pediatr Nephrol. 2001 Dec;16(12):1146-52. Review. PubMed citation
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. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am J Hum Genet. 2001 Oct;69(4):738-48. Epub 2001 Aug 30. PubMed citation
Loonen AJ, Knoers NV, van Os CH, Deen PM. Aquaporin 2 mutations in nephrogenic diabetes insipidus. Semin Nephrol. 2008 May;28(3):252-65. doi: 10.1016/j.semnephrol.2008.03.006. Review. PubMed citation
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. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J Am Soc Nephrol. 2002 Sep;13(9):2267-77. PubMed citation
Noda Y, Sohara E, Ohta E, Sasaki S. Aquaporins in kidney pathophysiology. Nat Rev Nephrol. 2010 Mar;6(3):168-78. doi: 10.1038/nrneph.2009.231. Epub 2010 Jan 26. Review. PubMed citation
Robben JH, Knoers NV, Deen PM. Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2006 Aug;291(2):F257-70. Review. PubMed citation


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