{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:50:21Z","timestamp":1790614221721,"version":"4.1.0"},"reference-count":91,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T00:00:00Z","timestamp":1309824000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Rev Endocrinol"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1038\/nrendo.2011.100","type":"journal-article","created":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T06:46:35Z","timestamp":1309848395000},"page":"701-714","source":"Crossref","is-referenced-by-count":154,"title":["Familial forms of diabetes insipidus: clinical and molecular characteristics"],"prefix":"10.1038","volume":"7","author":[{"given":"Muriel","family":"Babey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kopp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary L.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,7,5]]},"reference":[{"key":"BFnrendo2011100_CR1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/S0889-8529(05)70207-3","volume":"30","author":"GL Robertson","year":"2001","unstructured":"Robertson, G. L. Antidiuretic hormone. Normal and disordered function. Endocrinol. Metab. Clin. North Am. 30, 671\u2013694 (2001).","journal-title":"Endocrinol. Metab. Clin. North Am."},{"key":"BFnrendo2011100_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0079-6123(02)39003-4","volume":"139","author":"H Gainer","year":"2002","unstructured":"Gainer, H., Yamashita, M., Fields, R. L., House, S. B. & Rusnak, M. The magnocellular neuronal phenotype: cell-specific gene expression in the hypothalamo\u2013neurohypophysial system. Prog. Brain Res. 139, 1\u201314 (2002).","journal-title":"Prog. Brain Res."},{"key":"BFnrendo2011100_CR3","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1038\/302342a0","volume":"302","author":"H Land","year":"1983","unstructured":"Land, H. et al. Deduced amino acid sequence from the bovine oxytocin-neurophysin I precursor cDNA. Nature 302, 342\u2013344 (1983).","journal-title":"Nature"},{"key":"BFnrendo2011100_CR4","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/295299a0","volume":"295","author":"H Land","year":"1982","unstructured":"Land, H., Sch\u00fctz, G., Schmale, H. & Richter, D. Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressin-neurophysinII precursor. Nature 295, 299\u2013303 (1982).","journal-title":"Nature"},{"key":"BFnrendo2011100_CR5","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1385\/JMN:18:3:223","volume":"18","author":"R Acher","year":"2002","unstructured":"Acher, R., Chauvet, J. & Rouille, Y. Dynamic processing of neuropeptides: sequential conformation shaping of neurohypophysial preprohormones during intraneuronal secretory transport. J. Mol. Neurosci. 18, 223\u2013228 (2002).","journal-title":"J. Mol. Neurosci."},{"key":"BFnrendo2011100_CR6","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1023\/A:1022564803093","volume":"18","author":"FM de Bree","year":"1998","unstructured":"de Bree, F. M. & Burbach, J. P. Structure-function relationships of the vasopressin prohormone domains. Cell. Mol. Neurobiol. 18, 173\u2013191 (1998).","journal-title":"Cell. Mol. Neurobiol."},{"key":"BFnrendo2011100_CR7","first-page":"S20","volume":"21","author":"GL Robertson","year":"1987","unstructured":"Robertson, G. L. Physiology of ADH secretion. Kidney Int. Suppl. 21, S20\u2013S26 (1987).","journal-title":"Kidney Int. Suppl."},{"key":"BFnrendo2011100_CR8","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ki.1976.76","volume":"10","author":"GL Robertson","year":"1976","unstructured":"Robertson, G. L., Shelton, R. L. & Athar, S. The osmoregulation of vasopressin. Kidney Int. 10, 25\u201337 (1976).","journal-title":"Kidney Int."},{"key":"BFnrendo2011100_CR9","first-page":"E607","volume":"244","author":"RL Zerbe","year":"1983","unstructured":"Zerbe, R. L. & Robertson, G. L. Osmoregulation of thirst and vasopressin secretion in human subjects: effects of various solutes. Am. J. Physiol. 244, E607\u2013E614 (1983).","journal-title":"Am. J. Physiol."},{"key":"BFnrendo2011100_CR10","first-page":"R671","volume":"253","author":"PH Baylis","year":"1987","unstructured":"Baylis, P. H. Osmoregulation and control of vasopressin secretion in healthy humans. Am. J. Physiol. 253, R671\u2013R678 (1987).","journal-title":"Am. J. Physiol."},{"key":"BFnrendo2011100_CR11","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1016\/0140-6736(91)91889-3","volume":"338","author":"KL Koch","year":"1991","unstructured":"Koch, K. L. Nausea and vasopressin. Lancet 338, 1023 (1991).","journal-title":"Lancet"},{"key":"BFnrendo2011100_CR12","first-page":"368","volume":"14","author":"GL Robertson","year":"1994","unstructured":"Robertson, G. L. The use of vasopressin assays in physiology and pathophysiology. Semin. Nephrol. 14, 368\u2013383 (1994).","journal-title":"Semin. Nephrol."},{"key":"BFnrendo2011100_CR13","doi-asserted-by":"publisher","first-page":"1768","DOI":"10.1172\/JCI118222","volume":"96","author":"H Nonoguchi","year":"1995","unstructured":"Nonoguchi, H. et al. Immunohistochemical localization of V2 vasopressin receptor along the nephron and functional role of luminal V2 receptor in terminal inner medullary collecting ducts. J. Clin. Invest. 96, 1768\u20131778 (1995).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2011100_CR14","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/357333a0","volume":"357","author":"M Birnbaumer","year":"1992","unstructured":"Birnbaumer, M. et al. Molecular cloning of the receptor for human antidiuretic hormone. Nature 357, 333\u2013335 (1992).","journal-title":"Nature"},{"key":"BFnrendo2011100_CR15","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1126\/science.8140421","volume":"264","author":"PM Deen","year":"1994","unstructured":"Deen, P. M. et al. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264, 92\u201395 (1994).","journal-title":"Science"},{"key":"BFnrendo2011100_CR16","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1146\/annurev.physiol.61.1.683","volume":"61","author":"DT Ward","year":"1999","unstructured":"Ward, D. T., Hammond, T. G. & Harris, H. W. Modulation of vasopressin-elicited water transport by trafficking of aquaporin2-containing vesicles. Annu. Rev. Physiol. 61, 683\u2013697 (1999).","journal-title":"Annu. Rev. Physiol."},{"key":"BFnrendo2011100_CR17","doi-asserted-by":"publisher","first-page":"14800","DOI":"10.1074\/jbc.272.23.14800","volume":"272","author":"K Fushimi","year":"1997","unstructured":"Fushimi, K., Sasaki, S. & Marumo, F. Phosphorylation of serine 256 is required for cAMP-dependent regulatory exocytosis of the aquaporin-2 water channel. J. Biol. Chem. 272, 14800\u201314804 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFnrendo2011100_CR18","doi-asserted-by":"publisher","first-page":"41473","DOI":"10.1074\/jbc.M207525200","volume":"277","author":"BW van Balkom","year":"2002","unstructured":"van Balkom, B. W. et al. The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel. J. Biol. Chem. 277, 41473\u201341479 (2002).","journal-title":"J. Biol. Chem."},{"key":"BFnrendo2011100_CR19","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1152\/physrev.00024.2001","volume":"82","author":"S Nielsen","year":"2002","unstructured":"Nielsen, S. et al. Aquaporins in the kidney: from molecules to medicine. Physiol. Rev. 82, 205\u2013244 (2002).","journal-title":"Physiol. Rev."},{"key":"BFnrendo2011100_CR20","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1172\/JCI117079","volume":"93","author":"S Sasaki","year":"1994","unstructured":"Sasaki, S. et al. Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J. Clin. Invest. 93, 1250\u20131256 (1994).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2011100_CR21","doi-asserted-by":"publisher","first-page":"F235","DOI":"10.1152\/ajpcell.1997.272.4.C1144","volume":"272","author":"K Ishibashi","year":"1997","unstructured":"Ishibashi, K. et al. Immunolocalization and effect of dehydration on AQP3, a basolateral water channel of kidney collecting ducts. Am. J. Physiol. 272, F235\u2013F241 (1997).","journal-title":"Am. J. Physiol."},{"key":"BFnrendo2011100_CR22","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1042\/BC20040148","volume":"97","author":"SW Kim","year":"2005","unstructured":"Kim, S. W. et al. Decreased expression of AQP2 and AQP4 water channels and Na,K-ATPase in kidney collecting duct in AQP3 null mice. Biol. Cell 97, 765\u2013778 (2005).","journal-title":"Biol. Cell"},{"key":"BFnrendo2011100_CR23","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1152\/ajplegacy.1959.196.4.927","volume":"196","author":"CW Gottschalk","year":"1959","unstructured":"Gottschalk, C. W. & Mylle, M. Micropuncture study of the mammalian urinary concentrating mechanism: evidence for the countercurrent hypothesis. Am. J. Physiol. 196, 927\u2013936 (1959).","journal-title":"Am. J. Physiol."},{"key":"BFnrendo2011100_CR24","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/S0889-8529(18)30031-8","volume":"24","author":"GL Robertson","year":"1995","unstructured":"Robertson, G. L. Diabetes insipidus. Endocrinol. Metab. Clin. North Am. 24, 549\u2013572 (1995).","journal-title":"Endocrinol. Metab. Clin. North Am."},{"key":"BFnrendo2011100_CR25","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1056\/NEJM197603042941001","volume":"294","author":"AG Robinson","year":"1976","unstructured":"Robinson, A. G. DDAVP in the treatment of central diabetes insipidus. N. Engl. J. Med. 294, 507\u2013511 (1976).","journal-title":"N. Engl. J. Med."},{"key":"BFnrendo2011100_CR26","first-page":"486","volume":"131","author":"RE Weitzman","year":"1979","unstructured":"Weitzman, R. E. & Kleeman, C. R. The clinical physiology of water metabolism. Part II: Renal mechanisms for urinary concentration; diabetes insipidus. West J. Med. 131, 486\u2013515 (1979).","journal-title":"West J. Med."},{"key":"BFnrendo2011100_CR27","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1038\/183891a0","volume":"183","author":"JD Crawford","year":"1959","unstructured":"Crawford, J. D. & Kennedy, G. C. Animal physiology: Chlorothiazide in diabetes insipidus. Nature 183, 891 (1959).","journal-title":"Nature"},{"key":"BFnrendo2011100_CR28","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1097\/MNH.0b013e3283094eb1","volume":"17","author":"D Brown","year":"2008","unstructured":"Brown, D., Hasler, U., Nunes, P., Bouley, R. & Lu, H. A. J. Phosphorylation events and the modulation of aquaporin 2 cell surface expression. Curr. Opin. Nephrol. Hypertens. 17, 491\u2013498 (2008).","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"BFnrendo2011100_CR29","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/S1701-2163(16)34448-6","volume":"32","author":"N Aleksandrov","year":"2010","unstructured":"Aleksandrov, N. et al. Gestational diabetes insipidus: a review of an underdiagnosed condition. J. Obstet. Gynaecol. Can. 32, 225\u2013231 (2010).","journal-title":"J. Obstet. Gynaecol. Can."},{"key":"BFnrendo2011100_CR30","first-page":"241","volume":"100","author":"GL Robertson","year":"1987","unstructured":"Robertson, G. L. Dipsogenic diabetes insipidus: a newly recognized syndrome caused by a selective defect in the osmoregulation of thirst. Trans. Assoc. Am. Physicians 100, 241\u2013249 (1987).","journal-title":"Trans. Assoc. Am. Physicians"},{"key":"BFnrendo2011100_CR31","doi-asserted-by":"publisher","first-page":"1539","DOI":"10.1056\/NEJM198112243052601","volume":"305","author":"RL Zerbe","year":"1981","unstructured":"Zerbe, R. L. & Robertson, G. L. A comparison of plasma vasopressin measurements with a standard indirect test in the differential diagnosis of polyuria. N. Engl. J. Med. 305, 1539\u20131546 (1981).","journal-title":"N. Engl. J. Med."},{"key":"BFnrendo2011100_CR32","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1148\/radiology.207.1.9530302","volume":"207","author":"H Kurokawa","year":"1998","unstructured":"Kurokawa, H. et al. Posterior lobe of the pituitary gland: correlation between signal intensity on T1-weighted MR images and vasopressin concentration. Radiology 207, 79\u201383 (1998).","journal-title":"Radiology"},{"key":"BFnrendo2011100_CR33","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1373\/clinchem.2005.060038","volume":"52","author":"NG Morgenthaler","year":"2006","unstructured":"Morgenthaler, N. G., Struck, J., Alonso, C. & Bergmann, A. Assay for the measurement of copeptin, a stable peptide derived from the precursor of vasopressin. Clin. Chem. 52, 112\u2013119 (2006).","journal-title":"Clin. Chem."},{"key":"BFnrendo2011100_CR34","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1210\/jcem-15-5-547","volume":"15","author":"EL Levinger","year":"1955","unstructured":"Levinger, E. L. & Escamilla, R. F. Hereditary diabetes insipidus: report of 20 cases in seven generations. J. Clin. Endocrinol. Metab. 15, 547\u2013552 (1955).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2011100_CR35","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/S0140-6736(01)87712-6","volume":"140","author":"C McIlraith","year":"1892","unstructured":"McIlraith, C. Notes on some cases of diabetes insipidus with marked family and hereditary tendencies. Lancet 140, 767\u2013768 (1892).","journal-title":"Lancet"},{"key":"BFnrendo2011100_CR36","first-page":"212","volume":"17","author":"LA Chase","year":"1927","unstructured":"Chase, L. A. Hereditary diabetes insipidus. Can. Med. Assoc. J. 17, 212\u2013214 (1927).","journal-title":"Can. Med. Assoc. J."},{"issue":"Suppl.","key":"BFnrendo2011100_CR37","first-page":"1","volume":"159","author":"H Forssman","year":"1945","unstructured":"Forssman, H. On hereditary diabetes insipidus with special regard to a sex-linked form. Acta Med. Scand. 159 (Suppl.), 1\u2013196 (1945).","journal-title":"Acta Med. Scand."},{"key":"BFnrendo2011100_CR38","unstructured":"Robertson, G., Nayak, S., Kopp, P., Johansson,J. O. & Rittig, S. The cause of vasopressin responsive familial diabetes insipidus in a large Swedish kindred with X-linked recessive mode of transmission [abstract]. J. Invest. Med. 49, 58A (2001)."},{"key":"BFnrendo2011100_CR39","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1159\/000320117","volume":"116","author":"D Bockenhauer","year":"2010","unstructured":"Bockenhauer, D. et al. Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases. Nephron Physiol. 116, 23\u201329 (2010).","journal-title":"Nephron Physiol."},{"key":"BFnrendo2011100_CR40","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/j.semnephrol.2006.03.003","volume":"26","author":"JH Christensen","year":"2006","unstructured":"Christensen, J. H. & Rittig, S. Familial neurohypophyseal diabetes insipidus\u2014an update. Semin. Nephrol. 26, 209\u2013223 (2006).","journal-title":"Semin. Nephrol."},{"key":"BFnrendo2011100_CR41","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/S1043-2760(97)00157-4","volume":"8","author":"LK Hansen","year":"1997","unstructured":"Hansen, L. K., Rittig, S. & Robertson, G. L. Genetic basis of familial neurohypophyseal diabetes insipidus. Trends Endocrinol. Metab. 8, 363\u2013372 (1997).","journal-title":"Trends Endocrinol. Metab."},{"key":"BFnrendo2011100_CR42","doi-asserted-by":"publisher","first-page":"599A","DOI":"10.1210\/jcem.77.3.8370682","volume":"77","author":"JF McLeod","year":"1993","unstructured":"McLeod, J. F. et al. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J. Clin. Endocrinol. Metab. 77, 599A\u2013599G (1993).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2011100_CR43","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1046\/j.1365-2265.2003.01834.x","volume":"59","author":"PC Elias","year":"2003","unstructured":"Elias, P. C. et al. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clin. Endocrinol. (Oxf.) 59, 511\u2013518 (2003).","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"BFnrendo2011100_CR44","first-page":"493","volume-title":"Vasopressin","author":"GL Robertson","year":"1993","unstructured":"Robertson, G. L. et al. in Vasopressin (eds Gross, P., Richter, D. & Robertson, G. L.) 493\u2013503 (John Libbey Eurotext, Paris, 1993)."},{"key":"BFnrendo2011100_CR45","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/gm13","volume":"1","author":"PD Stenson","year":"2009","unstructured":"Stenson, P. D. et al. The Human Gene Mutation Database: 2008 update. Genome Med. 1, 13 (2009).","journal-title":"Genome Med."},{"key":"BFnrendo2011100_CR46","first-page":"107","volume":"58","author":"S Rittig","year":"1996","unstructured":"Rittig, S. et al. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am. J. Hum. Genet. 58, 107\u2013117 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2011100_CR47","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.1172\/JCI200318616","volume":"112","author":"TA Russell","year":"2003","unstructured":"Russell, T. A. et al. A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. J. Clin. Invest. 112, 1697\u20131706 (2003).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2011100_CR48","doi-asserted-by":"publisher","first-page":"R1641","DOI":"10.1152\/ajpregu.00034.2009","volume":"296","author":"M Hayashi","year":"2009","unstructured":"Hayashi, M. et al. Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus. Am. J. Physiol. Regul. Integr. Comp. Physiol. 296, R1641\u2013R1649 (2009).","journal-title":"Am. J. Physiol. Regul. Integr. Comp. Physiol."},{"key":"BFnrendo2011100_CR49","doi-asserted-by":"publisher","first-page":"R486","DOI":"10.1152\/ajpregu.00529.2009","volume":"298","author":"M Hiroi","year":"2010","unstructured":"Hiroi, M. et al. Activation of vasopressin neurons leads to phenotype progression in a mouse model for familial neurohypophysial diabetes insipidus. Am. J. Physiol. Regul. Integr. Comp. Physiol. 298, R486\u2013R493 (2010).","journal-title":"Am. J. Physiol. Regul. Integr. Comp. Physiol."},{"key":"BFnrendo2011100_CR50","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1093\/hmg\/8.7.1303","volume":"8","author":"MD Willcutts","year":"1999","unstructured":"Willcutts, M. D., Felner, E. & White, P. C. Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum. Mol. Genet. 8, 1303\u20131307 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrendo2011100_CR51","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1530\/EJE-09-0772","volume":"162","author":"A Abu Libdeh","year":"2010","unstructured":"Abu Libdeh, A. et al. Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. Eur. J. Endocrinol. 162, 221\u2013226 (2010).","journal-title":"Eur. J. Endocrinol."},{"key":"BFnrendo2011100_CR52","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1136\/jmg.34.10.838","volume":"34","author":"TG Barrett","year":"1997","unstructured":"Barrett, T. G. & Bundey, S. E. Wolfram (DIDMOAD) syndrome. J. Med. Genet. 34, 838\u2013841 (1997).","journal-title":"J. Med. Genet."},{"key":"BFnrendo2011100_CR53","first-page":"333","volume":"71","author":"CJ Thompson","year":"1989","unstructured":"Thompson, C. J. et al. Vasopressin secretion in the DIDMOAD (Wolfram) syndrome. Q. J. Med. 71, 333\u2013345 (1989).","journal-title":"Q. J. Med."},{"key":"BFnrendo2011100_CR54","doi-asserted-by":"publisher","first-page":"4026","DOI":"10.1210\/jcem.83.11.5158","volume":"83","author":"BA Gabre\u00ebls","year":"1998","unstructured":"Gabre\u00ebls, B. A. et al. The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. J. Clin. Endocrinol. Metab. 83, 4026\u20134033 (1998).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFnrendo2011100_CR55","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/ajmg.a.31809","volume":"143A","author":"A Cano","year":"2007","unstructured":"Cano, A. et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am. J. Med. Genet. A 143A, 1605\u20131612 (2007).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFnrendo2011100_CR56","first-page":"341A","volume":"44","author":"R Habiby","year":"1996","unstructured":"Habiby, R., Robertson, G. L., Kaplowitz, P. B. & Rittig, S. A novel X-linked form of familial neurohypophyseal diabetes insipidus [abstract]. J. Invest. Med. 44, 341A (1996).","journal-title":"J. Invest. Med."},{"key":"BFnrendo2011100_CR57","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1053\/j.ackd.2006.01.006","volume":"13","author":"DG Bichet","year":"2006","unstructured":"Bichet, D. G. Nephrogenic diabetes insipidus. Adv. Chronic Kidney Dis. 13, 96\u2013104 (2006).","journal-title":"Adv. Chronic Kidney Dis."},{"key":"BFnrendo2011100_CR58","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1681\/ASN.V1091958","volume":"10","author":"AF van Lieburg","year":"1999","unstructured":"van Lieburg, A. F., Knoers, N. V. & Monnens, L. A. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 10, 1958\u20131964 (1999).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR59","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1507\/endocrj.K07-083","volume":"55","author":"M Satoh","year":"2008","unstructured":"Satoh, M., Ogikubo, S. & Yoshizawa-Ogasawara, A. Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations. Endocr. J. 55, 277\u2013284 (2008).","journal-title":"Endocr. J."},{"key":"BFnrendo2011100_CR60","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1038\/357336a0","volume":"357","author":"SJ Lolait","year":"1992","unstructured":"Lolait, S. J. et al. Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature 357, 336\u2013339 (1992).","journal-title":"Nature"},{"key":"BFnrendo2011100_CR61","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1002\/jcp.21552","volume":"217","author":"E Spanakis","year":"2008","unstructured":"Spanakis, E., Milord, E. & Gragnoli, C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J. Cell. Physiol. 217, 605\u2013617 (2008).","journal-title":"J. Cell. Physiol."},{"key":"BFnrendo2011100_CR62","doi-asserted-by":"publisher","first-page":"F257","DOI":"10.1152\/ajprenal.00491.2005","volume":"291","author":"JH Robben","year":"2006","unstructured":"Robben, J. H., Knoers, N. V. & Deen, P. M. Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am. J. Physiol. Renal Physiol. 291, F257\u2013F270 (2006).","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"BFnrendo2011100_CR63","doi-asserted-by":"publisher","first-page":"1806","DOI":"10.1210\/mend.11.12.0017","volume":"11","author":"H Sadeghi","year":"1997","unstructured":"Sadeghi, H., Robertson, G. L., Bichet, D. G., Innamorati, G. & Birnbaumer, M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol. Endocrinol. 11, 1806\u20131813 (1997).","journal-title":"Mol. Endocrinol."},{"key":"BFnrendo2011100_CR64","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1681\/ASN.V9101861","volume":"9","author":"Y Ala","year":"1998","unstructured":"Ala, Y. et al. Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype. J. Am. Soc. Nephrol. 9, 1861\u20131872 (1998).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR65","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000245059","volume":"114","author":"D Bockenhauer","year":"2009","unstructured":"Bockenhauer, D. et al. Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus. Nephron Physiol. 114, 1\u201310 (2009).","journal-title":"Nephron Physiol."},{"key":"BFnrendo2011100_CR66","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1124\/mol.109.061804","volume":"77","author":"MD Rochdi","year":"2010","unstructured":"Rochdi, M. D. et al. Functional characterization of vasopressin type 2 receptor substitutions (R137H\/C\/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments. Mol. Pharmacol. 77, 836\u2013845 (2010).","journal-title":"Mol. Pharmacol."},{"key":"BFnrendo2011100_CR67","doi-asserted-by":"publisher","first-page":"1884","DOI":"10.1056\/NEJMoa042743","volume":"352","author":"BJ Feldman","year":"2005","unstructured":"Feldman, B. J. et al. Nephrogenic syndrome of inappropriate antidiuresis. N. Engl. J. Med. 352, 1884\u20131890 (2005).","journal-title":"N. Engl. J. Med."},{"issue":"Suppl. 1","key":"BFnrendo2011100_CR68","doi-asserted-by":"publisher","first-page":"S54","DOI":"10.1016\/j.amjmed.2006.05.008","volume":"119","author":"SE Gitelman","year":"2006","unstructured":"Gitelman, S. E., Feldman, B. J. & Rosenthal, S. M. Nephrogenic syndrome of inappropriate antidiuresis: a novel disorder in water balance in pediatric patients. Am. J. Med. 119 (Suppl. 1), S54\u2013S58 (2006).","journal-title":"Am. J. Med."},{"key":"BFnrendo2011100_CR69","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1007\/s00467-005-2057-8","volume":"20","author":"A Soylu","year":"2005","unstructured":"Soylu, A. et al. Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus. Pediatr. Nephrol. 20, 1814\u20131817 (2005).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrendo2011100_CR70","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1007\/s00467-003-1195-0","volume":"18","author":"A Pattaragarn","year":"2003","unstructured":"Pattaragarn, A. & Alon, U. S. Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor. Pediatr. Nephrol. 18, 1073\u20131076 (2003).","journal-title":"Pediatr. Nephrol."},{"key":"BFnrendo2011100_CR71","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1620\/tjem.162.137","volume":"162","author":"T Okayasu","year":"1990","unstructured":"Okayasu, T. et al. A family case of nephrogenic diabetes insipidus. Tohoku J. Exp. Med. 162, 137\u2013145 (1990).","journal-title":"Tohoku J. Exp. Med."},{"key":"BFnrendo2011100_CR72","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1046\/j.1365-2265.1998.00426.x","volume":"49","author":"Z Hochberg","year":"1998","unstructured":"Hochberg, Z., Even, L. & Danon, A. Amelioration of polyuria in nephrogenic diabetes insipidus due to aquaporin-2 deficiency. Clin. Endocrinol. (Oxf.) 49, 39\u201344 (1998).","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"BFnrendo2011100_CR73","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1111\/j.1651-2227.1994.tb13072.x","volume":"83","author":"B Jakobsson","year":"1994","unstructured":"Jakobsson, B. & Berg, U. Effect of hydrochlorothiazide and indomethacin treatment on renal function in nephrogenic diabetes insipidus. Acta Paediatr. 83, 522\u2013525 (1994).","journal-title":"Acta Paediatr."},{"key":"BFnrendo2011100_CR74","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1172\/JCI8688","volume":"105","author":"JP Morello","year":"2000","unstructured":"Morello, J. P. et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J. Clin. Invest. 105, 887\u2013895 (2000).","journal-title":"J. Clin. Invest."},{"key":"BFnrendo2011100_CR75","doi-asserted-by":"publisher","first-page":"2190","DOI":"10.1681\/ASN.2008121289","volume":"20","author":"F Jean-Alphonse","year":"2009","unstructured":"Jean-Alphonse, F. et al. Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 20, 2190\u20132203 (2009).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR76","doi-asserted-by":"publisher","first-page":"12195","DOI":"10.1073\/pnas.0900130106","volume":"106","author":"JH Robben","year":"2009","unstructured":"Robben, J. H. et al. Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. Proc. Natl Acad. Sci. USA 106, 12195\u201312200 (2009).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnrendo2011100_CR77","doi-asserted-by":"publisher","first-page":"20676","DOI":"10.1074\/jbc.M611530200","volume":"282","author":"M Oueslati","year":"2007","unstructured":"Oueslati, M. et al. Rescue of a nephrogenic diabetes insipidus-causing vasopressin V2 receptor mutant by cell-penetrating peptides. J.Biol. Chem. 282, 20676\u201320685 (2007).","journal-title":"J.Biol. Chem."},{"key":"BFnrendo2011100_CR78","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.semnephrol.2008.03.010","volume":"28","author":"R Bouley","year":"2008","unstructured":"Bouley, R., Hasler, U., Lu, H. A., Nunes, P. & Brown, D. Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus. Semin. Nephrol. 28, 266\u2013278 (2008).","journal-title":"Semin. Nephrol."},{"key":"BFnrendo2011100_CR79","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1093\/hmg\/6.11.1865","volume":"6","author":"MC Canfield","year":"1997","unstructured":"Canfield, M. C., Tamarappoo, B. K., Moses, A. M., Verkman, A. S. & Holtzman, E. J. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum. Mol. Genet. 6, 1865\u20131871 (1997).","journal-title":"Hum. Mol. Genet."},{"key":"BFnrendo2011100_CR80","doi-asserted-by":"publisher","first-page":"F489","DOI":"10.1152\/ajprenal.90589.2008","volume":"297","author":"C Guyon","year":"2009","unstructured":"Guyon, C. et al. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype. Am. J. Physiol. Renal Physiol. 297, F489\u2013F498 (2009).","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"BFnrendo2011100_CR81","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1681\/ASN.V82242","volume":"8","author":"SM Mulders","year":"1997","unstructured":"Mulders, S. M. et al. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J. Am. Soc. Nephrol. 8, 242\u2013248 (1997).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR82","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1083\/jcb.200309017","volume":"163","author":"EJ Kamsteeg","year":"2003","unstructured":"Kamsteeg, E. J. et al. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus. J. Cell Biol. 163, 1099\u20131109 (2003).","journal-title":"J. Cell Biol."},{"key":"BFnrendo2011100_CR83","doi-asserted-by":"publisher","first-page":"2872","DOI":"10.1681\/ASN.2005010104","volume":"16","author":"F de Mattia","year":"2005","unstructured":"de Mattia, F. et al. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2\u2013R254L explains dominant nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 16, 2872\u20132880 (2005).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR84","doi-asserted-by":"publisher","first-page":"E891","DOI":"10.1002\/humu.21082","volume":"30","author":"PJ Savelkoul","year":"2009","unstructured":"Savelkoul, P. J. et al. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation. Hum. Mutat. 30, E891\u2013E903 (2009).","journal-title":"Hum. Mutat."},{"key":"BFnrendo2011100_CR85","first-page":"555A","volume":"29","author":"GL Robertson","year":"1981","unstructured":"Robertson, G. L. & Scheidler, J. A. A newly recognized variant of familial nephrogenic diabetes insipidus distinguished by partial resistance to vasopressin (Type II) [abstract]. Clin. Res. 29, 555A (1981).","journal-title":"Clin. Res."},{"key":"BFnrendo2011100_CR86","unstructured":"Robertson, G. L., Kopp, P. & Bichet, D. G. Variations in clinical phenotype associated with different mutations of the V2 receptor gene in X-linked recessive congenital nephrogenic DI (xCNDI) [abstract]. Program of NDI Foundation Global Conference Page 11 (2000)."},{"key":"BFnrendo2011100_CR87","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1385\/ENDO:24:1:055","volume":"24","author":"H Mizuno","year":"2004","unstructured":"Mizuno, H. et al. Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus. Endocrine 24, 55\u201359 (2004).","journal-title":"Endocrine"},{"key":"BFnrendo2011100_CR88","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1111\/j.1365-2265.2007.03054.x","volume":"68","author":"M Faerch","year":"2008","unstructured":"Faerch, M. et al. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene. Clin. Endocrinol. (Oxf.) 68, 395\u2013403 (2008).","journal-title":"Clin. Endocrinol. (Oxf.)"},{"key":"BFnrendo2011100_CR89","doi-asserted-by":"publisher","first-page":"2267","DOI":"10.1097\/01.ASN.0000027355.41663.14","volume":"13","author":"N Marr","year":"2002","unstructured":"Marr, N. et al. Cell-biologic and functional analyses of five new aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 13, 2267\u20132277 (2002).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFnrendo2011100_CR90","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1086\/323643","volume":"69","author":"M Kuwahara","year":"2001","unstructured":"Kuwahara, M. et al. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. Am. J. Hum. Genet. 69, 738\u2013748 (2001).","journal-title":"Am. J. Hum. Genet."},{"key":"BFnrendo2011100_CR91","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1172\/JCI2605","volume":"102","author":"SM Mulders","year":"1998","unstructured":"Mulders, S. M. et al. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J. Clin. Invest. 102, 57\u201366 (1998).","journal-title":"J. Clin. Invest."}],"container-title":["Nature Reviews Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2011.100.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2011.100","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nrendo.2011.100.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T23:36:08Z","timestamp":1684452968000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nrendo.2011.100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,5]]},"references-count":91,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["BFnrendo2011100"],"URL":"https:\/\/doi.org\/10.1038\/nrendo.2011.100","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.14267405.15779629","asserted-by":"object"}]},"ISSN":["1759-5029","1759-5037"],"issn-type":[{"value":"1759-5029","type":"print"},{"value":"1759-5037","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7,5]]}}}