{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:39Z","timestamp":1792166799552,"version":"4.4.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2008,4]]},"DOI":"10.1007\/s00467-007-0682-0","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T13:29:48Z","timestamp":1196083788000},"page":"663-665","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus"],"prefix":"10.1007","volume":"23","author":[{"given":"Zelal","family":"Bircan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihal","family":"Karacayir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae","family":"II Cheong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,4,1]]},"reference":[{"key":"682_CR1","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1007\/s004670100051","volume":"16","author":"NV Knoers","year":"2001","unstructured":"Knoers NV, Deen PM (2001) Molecular and cellular defects in nephrogenic diabetes insipidus. Pediatr Nephrol 16:1146\u20131152","journal-title":"Pediatr Nephrol"},{"key":"682_CR2","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1093\/ndt\/15.suppl_6.26","volume":"15","author":"E-J Kamsteeg","year":"2000","unstructured":"Kamsteeg E-J, Mulders SM, Bichet DG, Deen PMT, Van Os C (2000) Consequences of aquaporin 2 tetramerization for genetics and routing. Nephrol Dial Transplant 15:26\u201328","journal-title":"Nephrol Dial Transplant"},{"key":"682_CR3","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.3346\/jkms.2005.20.6.1076","volume":"20","author":"HI Cheong","year":"2005","unstructured":"Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y (2005) Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. J Korean Med Sci 20:1076\u20131078","journal-title":"J Korean Med Sci"},{"key":"682_CR4","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1681\/ASN.V8121855","volume":"8","author":"R Vargas-Poussou","year":"1997","unstructured":"Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C (1997) Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 8:1855\u20131862","journal-title":"J Am Soc Nephrol"},{"key":"682_CR5","first-page":"686","volume":"82","author":"Z Hochberg","year":"1997","unstructured":"Hochberg Z, Van Lieburg A, Even L, Brenner B, Lanir N, Van Oost BA, Knoers NV (1997) Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J Clin Endocrinol Metab 82:686\u2013689","journal-title":"J Clin Endocrinol Metab"},{"key":"682_CR6","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1681\/ASN.V1161044","volume":"11","author":"M-F Arthus","year":"2000","unstructured":"Arthus M-F, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Kaplan BS, Robertson GL, Sasaki S, Morgan K, Bichet DG, Fujiwara TM (2000) Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 11:1044\u20131054","journal-title":"J Am Soc Nephrol"},{"key":"682_CR7","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1507\/endocrj.50.473","volume":"50","author":"T Tajima","year":"2003","unstructured":"Tajima T, Okuhara K, Satoh K, Nakae J, Fujieda K (2003) Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocr J 50:473\u2013476","journal-title":"Endocr J"},{"key":"682_CR8","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, Bichet DG, Hoefs S, Savelkoul PJM, Konings IBM, De Mattia F, Graat MPJ, Arthus M-F, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, M\u00fcller D, Van Os CH, Deen PM (2002) 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","journal-title":"J Am Soc Nephrol"},{"key":"682_CR9","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1097\/01.gim.0000223554.46981.7a","volume":"8","author":"P Carroll","year":"2006","unstructured":"Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF (2006) Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med 8:443\u2013447","journal-title":"Genet Med"},{"key":"682_CR10","first-page":"648","volume":"55","author":"AF Van Lieburg","year":"1994","unstructured":"Van Lieburg AF, Verdijk MA, Knoers VV, Van Essen AJ, Proesmans W, Mallmann R, Monnens LA, Van Oost BA, Van Os CH, Deen PM (1994) Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 55:648\u2013652","journal-title":"Am J Hum Genet"},{"key":"682_CR11","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1681\/ASN.V82242","volume":"8","author":"SM Mulders","year":"1997","unstructured":"Mulders SM, Knoers NV, Van Lieburg AF, Monnens LAH, Leumann E, Wuhl E, Schober E, Rijss JPL, Van Os CH, Deen PM (1997) New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol 8:242\u2013248","journal-title":"J Am Soc Nephrol"},{"key":"682_CR12","doi-asserted-by":"publisher","first-page":"215","DOI":"10.2169\/internalmedicine.37.215","volume":"2","author":"M Kuwahara","year":"1998","unstructured":"Kuwahara M (1998) Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. Intern Med 2:215\u2013217","journal-title":"Intern Med"},{"key":"682_CR13","first-page":"3205","volume":"83","author":"K Goj\u0131","year":"1998","unstructured":"Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S (1998) Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. J Clin Endocrinol Metab 83:3205\u20133209","journal-title":"J Clin Endocrinol Metab"},{"key":"682_CR14","first-page":"1703","volume":"85","author":"K Pasel","year":"2000","unstructured":"Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jaaskelainen J, Gruters A, Filler G, Sch\u00f6neberg T (2000) Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. J Clin Endocrinol Metab 85:1703\u20131710","journal-title":"J Clin Endocrinol Metab"},{"key":"682_CR15","doi-asserted-by":"publisher","first-page":"2694","DOI":"10.1210\/jcem.87.6.8617","volume":"87","author":"S-H Lin","year":"2002","unstructured":"Lin S-H, Bichet DG, Sasaki S, Kuwahara M, Arthus M-F, Lonergan M, Lin Y-F (2002) Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families. J Clin Endocrinol Metab 87:2694\u20132700","journal-title":"J Clin Endocrinol Metab"},{"key":"682_CR16","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1097\/01.ASN.0000125248.85135.43","volume":"15","author":"C Boccalandro","year":"2004","unstructured":"Boccalandro C, De Mattia F, Guo D-C, Xue L, Orlander P, King TM, Gupta P, Deen PM, Lavis VR, Milewicz DM (2004) Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin. J Am Soc Nephrol 15:1223\u20131231","journal-title":"J Am Soc Nephrol"},{"key":"682_CR17","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/dat.20131","volume":"5","author":"A Parashar","year":"2007","unstructured":"Parashar A, Martinucci P, Panesar M (2007) Vasopressin receptor antagonists. Dial Transplant 5:266\u2013274","journal-title":"Dial Transplant"},{"key":"682_CR18","doi-asserted-by":"publisher","first-page":"2836","DOI":"10.1681\/ASN.2005040371","volume":"16","author":"TM Fujiwara","year":"2005","unstructured":"Fujiwara TM, Bichet DG (2005) Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 16:2836\u20132846","journal-title":"J Am Soc Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0682-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-007-0682-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0682-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-007-0682-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T01:34:28Z","timestamp":1630200868000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-007-0682-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["682"],"URL":"https:\/\/doi.org\/10.1007\/s00467-007-0682-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4]]},"assertion":[{"value":"18 July 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2007","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 2007","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2008","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}