{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:17:32Z","timestamp":1759479452393,"version":"3.40.4"},"reference-count":7,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2003]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; Autosomal dominant familial neurohypophyseal diabetes insipidus is a rare disorder characterized by polydipsia and polyuria. We present the results of the molecular analysis of the &lt;i&gt;AVP-NPII&lt;\/i&gt; gene of a German kindred. &lt;i&gt;Methods:&lt;\/i&gt; All three exons of the gene were amplified by polymerase chain reaction and sequenced. &lt;i&gt;Results:&lt;\/i&gt; In 7 affected individuals a new missense mutation (1770G &gt; T) in exon 2 was found predicting a cysteine to phenylalanine substitution at codon 58 in the neurophysin II domain (NPII). &lt;i&gt;Conclusion:&lt;\/i&gt; As a result of this mutation a cysteine residue is exchanged, which is involved in a disulfide bond with cysteine 44 of the NPII moiety, hypothesizing that the resulting misfolded protein may lead to chronic neurotoxicity by accumulation of these products in the endoplasmatic reticulum.<\/jats:p>","DOI":"10.1159\/000072526","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T08:19:50Z","timestamp":1061540390000},"page":"143-147","source":"Crossref","is-referenced-by-count":7,"title":["A New Missense Mutation of the Vasopressin-Neurophysin II Gene in a Family with Neurohypophyseal Diabetes insipidus"],"prefix":"10.1159","volume":"60","author":[{"given":"M.T.F.","family":"Wolf","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"D\u00f6tsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Metzler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Holder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Repp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Rascher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,8,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.11.3643"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.7.3351"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1996.628449.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.2.870"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.27.18965"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000023573"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.1.51"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72526","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72526","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:41:04Z","timestamp":1745466064000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000072526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000072526","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2003]]}}}