[1. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol. 2001; 63: 607-630.10.1146/annurev.physiol.63.1.607]Search in Google Scholar
[2. Birnbaumer M. Vasopressin receptors. Trends Endocrinol Metab. 2000; 11(10): 406-410.10.1016/S1043-2760(00)00304-0]Search in Google Scholar
[3. Schöneberg T, Kostenis E, Liu J, Gudermann T, Wess J. Molecular aspects of vasopressin receptor function. Adv Exp Med Biol. 1998; 449: 347-358.10.1007/978-1-4615-4871-3_4410026824]Search in Google Scholar
[4. Robert J, Clauser ER. Vasopressin receptors: Structure/function relationships and signal transduction in target cells. J Soc Biol. 2005; 199(4): 351-359.10.1051/jbio:2005037]Search in Google Scholar
[5. Cannon JF. Diabetes insipidus: Clinical and experimental studies with consideration of genetic relationships. Arch Intern Med. 1995; 96: 215-272.10.1001/archinte.1955.0025013008901214397883]Search in Google Scholar
[6. Nakano KK. Familial nephrogenic diabetes insipidus. Hawaii Med J. 1969; 28: 205-208.]Search in Google Scholar
[7. van Lieburg AF, Knoers NVAM, Monnens LAH. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1999; 10(9): 1958-1964.10.1681/ASN.V109195810477148]Search in Google Scholar
[8. Hong CR, Kang HG, Choi HJ, Cho MH, Lee JW, Kang JH, et al. X-linked recessive nephrogenic diabetes insipidus: a clinicogenetic study. J Pediatr Endocrinol Metab. 2014; 27(1-2): 93-99.10.1515/jpem-2013-023124030030]Search in Google Scholar
[9. Seibold A, Brabet P, Rosenthal W, Birnbaumer M. Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet. 1992; 51(5): 1078-1083.]Search in Google Scholar
[10. Bichet DG, Turner M, Morin D. Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Proc Assoc Am Physicians. 1998; 110(5): 387-394.]Search in Google Scholar
[11. Bichet DG. Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis. 2006; 13(2): 96-104.10.1053/j.ackd.2006.01.00616580609]Search in Google Scholar
[12. van den Ouweland AMW, Dreesen JCFM, Verdijk M, Knoers NVAM, Monnens LAH, et al. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet. 1992; 2(2): 99-102.10.1038/ng1092-991303271]Search in Google Scholar
[13. Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet. 1994; 55(2): 266-277.]Search in Google Scholar
[14. Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994; 55(2): 278-286.]Search in Google Scholar
[15. Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M. Binding, intracellular transport, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J Clin Invest.1995; 96(4): 2043-2050.10.1172/JCI1182521858437560098]Search in Google Scholar
[16. Cheong HI, Park HW, Ha IS, Moon HN, Choi Y, Ko KW, et al. Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. Nephron. 1997; 75(4): 431-437.10.1159/000189581]Search in Google Scholar
[17. Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, et al. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med. 2006; 8(1): 443-447.10.1097/01.gim.0000223554.46981.7a]Search in Google Scholar
[18. Bichet DG. Molecular and cellular biology of vasopressin and oxytocin receptors and action in the kidney. Curr Opin Nephrol Hypertens. 1994; 3(1): 46-53.10.1097/00041552-199401000-00006]Search in Google Scholar
[19. Bichet DG. Pathological aspects of water transport in the collecting ducts. Nephrologie. 1996; 17(7): 417-422.]Search in Google Scholar
[20. Alon U, Chan JCM. Hydrochlorothiazideamiloride in the treatment of congenital nephrogenic diabetes insipidus. Am J Nephrol. 1985; 5(1) 9-13.10.1159/000166896]Search in Google Scholar
[21. Libber S, Harrison H, Spector D. Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. J Pediatr. 1986; 108(2): 305-311.10.1016/S0022-3476(86)81010-1]Search in Google Scholar
[22. Morin D, Delenne AL, Kervran A. Congenital nephrogenic diabetes insipidus. Arch Pediatr. 2005; 12(1): 59-66.10.1016/j.arcped.2004.10.01115653057]Search in Google Scholar
[23. Cheong HI, Cho HY, Park HW, Ha IS, Choi Y. Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. Nephrology. 2007; 12(2): 113-117.10.1111/j.1440-1797.2006.00759.x17371330]Search in Google Scholar
[24. Los EL, Deen PM, Robben JH. Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus. J Neuroendocrinol. 2010; 22(5): 393-399.10.1111/j.1365-2826.2010.01983.x20163515]Search in Google Scholar
[25. Bockenhauer D, Carpentier E, Rochdi D, van’t Hoff W, Breton B, Bernier V, et al. Vasopressin type 2 receptor V88M mutation: Molecular basis of partial and complete nephrogenic diabetes insipidus. Nephron Physiol. 2010; 114(1): 1-10.10.1159/00024505919816050]Search in Google Scholar
[26. Ranadive SA, Ersoy B, Favre H, Cheung CC, Rosenthal SM, Miller WL, et al. Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. Clin Endocrinol (Oxf). 2009; 71(3): 388-393.10.1111/j.1365-2265.2008.03513.x588156919170711]Search in Google Scholar
[27. Robben JH, Deen PM. Pharmacological chaperones in nephrogenic diabetes insipidus: Possibilities for clinical application. BioDrugs. 2007; 21(3): 157-166.10.2165/00063030-200721030-0000317516711]Search in Google Scholar
[28. Robben JH, Sze M, Knoers NV, Deen PM. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: Relevance to therapy of nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2007; 292(1): 253-260.10.1152/ajprenal.00247.200616926443]Search in Google Scholar
[29. Morello JP, Salahpour A, Laperrière A, Bernier V, Arthus MF, Lonergan M, et al. Pharmacological chaper-ones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest. 2000; 105(7): 887-895. 10.1172/JCI868837748210749568]Search in Google Scholar