{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T20:49:03Z","timestamp":1761511743412,"version":"3.40.4"},"reference-count":5,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"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":[[2000]]},"abstract":"<jats:p>To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family members had arginine vasopressin-neurophysin II (AVP-NP-II) gene analyses done. A G to A transition was found by DNA sequence analysis at position 1773 (G1773A) of the AVP-NPII gene which is predicted to encode a substitution of tyrosine for cysteine in codon 59 (CYS59TYR). The mutation was confirmed by restriction endonuclease analysis of PCR amplification products that contain the corresponding segment of the AVP-NPII gene. To clarify the morphologic status of the pituitaries of family members, 12 affected and 3 nonaffected members had magnetic resonance imaging (MRI) studies. The bright spot of the posterior pituitary lobe was completely absent in 75% and faintly identified in 25% of the affected members who were examined with MRI. We conclude that (1)\u00a0a novel G1773A transition in exon 2 of the AVP-NPII gene causes ADNDI in the large Cypriot kindred studied, (2)\u00a0this mutation is predicted to encode a CYS59TYR substitution in NPII, and (3)\u00a0MRI studies of the posterior pituitary lobes of affected family members show either a decreased intensity or a complete absence of the bright spot in all cases studied.<\/jats:p>","DOI":"10.1159\/000023573","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:26:45Z","timestamp":1050427605000},"page":"239-245","source":"Crossref","is-referenced-by-count":8,"title":["A Novel Arginine Vasopressin-Neurophysin II Mutation Causes Autosomal Dominant Neurohypophyseal Diabetes insipidus and Morphologic Pituitary Changes"],"prefix":"10.1159","volume":"53","author":[{"given":"Nicos","family":"Skordis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippos C.","family":"Patsalis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe A.","family":"Hettinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kontou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Herakleous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.S.","family":"Krishnamani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.A.","family":"Phillips III","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2000,11,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.45.030183.001021"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.1.51"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.4.1352"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.4.1352"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.11.3643"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/23573","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/23573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:52:02Z","timestamp":1745470322000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000023573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":5,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2000,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000023573","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2000]]}}}