{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T01:10:47Z","timestamp":1772500247955,"version":"3.50.1"},"reference-count":21,"publisher":"Spandidos Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.3892\/ijmm.2016.2703","type":"journal-article","created":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T03:06:00Z","timestamp":1470884760000},"page":"1243-1249","source":"Crossref","is-referenced-by-count":14,"title":["Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus"],"prefix":"10.3892","volume":"38","author":[{"given":"Dan","family":"Tian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Cen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Nie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2016,8,11]]},"reference":[{"key":"key20180107232101_b1-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1530\/EJE-11-0048","article-title":"Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene","volume":"165","author":"de Fost","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"key20180107232101_b2-ijmm-38-04-1243","volume-title":"Williams textbook of endocrinology","author":"Kronenberg","year":"2008"},{"key":"key20180107232101_b3-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1007\/s00467-012-2118-8","article-title":"Congenital nephrogenic diabetes insipidus: The current state of affairs","volume":"27","author":"Wesche","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"key20180107232101_b4-ijmm-38-04-1243","first-page":"12","article-title":"Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus","volume":"38","author":"Lee","year":"2008","journal-title":"Ann Clin Lab Sci"},{"key":"key20180107232101_b5-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1111\/cen.12129","article-title":"A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family","volume":"78","author":"Ye","year":"2013","journal-title":"Clin Endocrinol (Oxf)"},{"key":"key20180107232101_b6-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1007\/s12020-012-9704-1","article-title":"Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus","volume":"42","author":"Duzenli","year":"2012","journal-title":"Endocrine"},{"key":"key20180107232101_b7-ijmm-38-04-1243","first-page":"1166","article-title":"The etiology and clinical characteristics of central diabetes insipidus, a retrospective study of 408 cases","volume":"81","author":"Gu","year":"2001","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"key20180107232101_b8-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1172\/JCI200318616","article-title":"A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons","volume":"112","author":"Russell","year":"2003","journal-title":"J Clin Invest"},{"key":"key20180107232101_b9-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1530\/EJE-10-0823","article-title":"Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene","volume":"164","author":"Brachet","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"key20180107232101_b10-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.0953-8194.2004.01183.x","article-title":"Magnetic resonance imaging of the hypothalamic-neurohypophyseal system","volume":"16","author":"Fujisawa","year":"2004","journal-title":"J Neuroendocrinol"},{"key":"key20180107232101_b11-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/nrendo.2011.100","article-title":"Familial forms of diabetes insipidus: Clinical and molecular characteristics","volume":"7","author":"Babey","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"key20180107232101_b12-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1172\/JCI115052","article-title":"A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus","volume":"87","author":"Ito","year":"1991","journal-title":"J Clin Invest"},{"key":"key20180107232101_b13-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s12020-012-9606-2","article-title":"Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene","volume":"42","author":"Luo","year":"2012","journal-title":"Endocrine"},{"key":"key20180107232101_b14-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.semnephrol.2006.03.003","article-title":"Familial neurohypophyseal diabetes insipidus - an update","volume":"26","author":"Christensen","year":"2006","journal-title":"Semin Nephrol"},{"key":"key20180107232101_b15-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/EJE-09-0772","article-title":"Autosomal recessive familial neurohypophyseal diabetes insipidus: Onset in early infancy","volume":"162","author":"Abu Libdeh","year":"2010","journal-title":"Eur J Endocrinol"},{"key":"key20180107232101_b16-ijmm-38-04-1243","first-page":"192","article-title":"A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: Cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus","volume":"81","author":"Rutishauser","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"key20180107232101_b17-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"18965","DOI":"10.1074\/jbc.274.27.18965","article-title":"Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus","volume":"274","author":"Beuret","year":"1999","journal-title":"J Biol Chem"},{"key":"key20180107232101_b18-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1023\/A:1022564803093","article-title":"Structure-function relationships of the vasopressin prohormone domains","volume":"18","author":"de Bree","year":"1998","journal-title":"Cell Mol Neurobiol"},{"key":"key20180107232101_b19-ijmm-38-04-1243","first-page":"2933","article-title":"Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation","volume":"84","author":"Siggaard","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"key20180107232101_b20-ijmm-38-04-1243","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1096\/fj.99-0892fje","article-title":"Endoplasmic reticulum derangement in hypothalamic neurons of rats expressing a familial neurohypophyseal diabetes insipidus mutant vasopressin transgene","volume":"14","author":"Si-Hoe","year":"2000","journal-title":"FASEB J"},{"key":"key20180107232101_b21-ijmm-38-04-1243","first-page":"754","article-title":"Mechanisms underlying progressive polyuria in familial neurohypophysial diabetes insipidus","volume":"22","author":"Arima","year":"2010","journal-title":"J Neuroendocrinol"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2016.2703\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T08:04:44Z","timestamp":1568275484000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2016.2703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,11]]},"references-count":21,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,8,11]]},"published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.3892\/ijmm.2016.2703"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2016.2703","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,11]]}}}