{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:32:21Z","timestamp":1745469141288,"version":"3.40.4"},"reference-count":4,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2015,9,26]],"date-time":"2015-09-26T00:00:00Z","timestamp":1443225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,9,26]],"date-time":"2015-09-26T00:00:00Z","timestamp":1443225600000},"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":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; To date, more than 100 mutations of &lt;i&gt;NR5A1&lt;\/i&gt; have been reported; however, mutations affecting the splice site are rare, with only two reported mutations. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To characterize the c.870+3_6delGAGT splice mutation of &lt;i&gt;NR5A1&lt;\/i&gt; through molecular analyses. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The reverse transcription polymerase chain reaction (RT-PCR) study revealed that c.870+3_6delGAGT resulted in p.A82fs*95. Mutant NR5A1 showed a reduced transactivation on the &lt;i&gt;CYP11A1&lt;\/i&gt; and &lt;i&gt;STAR&lt;\/i&gt; promoters without a dominant negative effect. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; To the best of our knowledge, this is the first report of the &lt;i&gt;NR5A1&lt;\/i&gt; splice site mutation, which was proven to be deleterious by the RT-PCR method.<\/jats:p>","DOI":"10.1159\/000440862","type":"journal-article","created":{"date-parts":[[2015,9,25]],"date-time":"2015-09-25T21:01:24Z","timestamp":1443214884000},"page":"65-68","source":"Crossref","is-referenced-by-count":2,"title":["Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in &lt;b&gt;&lt;i&gt;NR5A1&lt;\/i&gt;&lt;\/b&gt;"],"prefix":"10.1159","volume":"85","author":[{"given":"Masaki","family":"Takagi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Nishina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Yagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,9,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000353763"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0067"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159\/000320029"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ14-0340"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/440862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/440862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:54:10Z","timestamp":1745430850000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000440862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,26]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000440862","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2015,9,26]]}}}