{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:35:38Z","timestamp":1745469338672,"version":"3.40.4"},"reference-count":21,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ORL"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Vestibular schwannomas (VS) are benign tumors of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2 (NF2). In VS, losses of chromosomal material and mutations of the NF2 gene have been established to be causative. For a subset of VS without detectable gene alterations, promoter inactivation by hypermethylation has been suggested. However, published data are very limited and contradictory. &lt;i&gt;Methods:&lt;\/i&gt; We analyzed NF2 gene promoter methylation in 35 sporadic VS by methylation-specific PCR. &lt;i&gt;Results:&lt;\/i&gt; Twenty-three of the tumors were informative, showing no promoter methylation. In the remaining 12 tumors, promoter methylation could neither be verified nor excluded. &lt;i&gt;Conclusions:&lt;\/i&gt; Our study suggests that NF2 gene inactivation by promoter hypermethylation is a rare or very uncommon mechanism of NF2 gene inactivation in sporadic VS. Other mechanisms destabilizing the NF2 gene product, yet to be identified, might play a role in the genesis of VS apart from the loss or mutation of the NF2 gene.<\/jats:p>","DOI":"10.1159\/000334968","type":"journal-article","created":{"date-parts":[[2012,1,13]],"date-time":"2012-01-13T08:32:05Z","timestamp":1326443525000},"page":"33-37","source":"Crossref","is-referenced-by-count":13,"title":["Lack of Neurofibromatosis Type 2 Gene Promoter Methylation in Sporadic Vestibular Schwannomas"],"prefix":"10.1159","volume":"74","author":[{"given":"D.","family":"Koutsimpelas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Ruerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.J.","family":"Mann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Brieger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,1,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097%2F00005537-200010000-00030"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F3.2.347"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F363515a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.10282"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1209849"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.onc.1202141"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006%2Fnbdi.1998.0179"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1750-3639.2005.tb00095.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F11.1.69"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2Fs007010070036"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2F0022-2836%2887%2990689-9"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMra072067"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2443.2001.00432.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2990.2010.01090.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.93.18.9821"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.40.11.802"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291098-2264%28199609%2917%3A1%3C45%3A%3AAID-GCC7%3E3.0.CO%3B2-2"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007%2Fs11060-010-0412-5"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20255"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1097%2F00019606-199712000-00006"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs11060-010-0307-5"}],"container-title":["ORL"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334968","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334968","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:52:21Z","timestamp":1745434341000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000334968"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2012,2,1]]},"published-print":{"date-parts":[[2012,2,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000334968","archive":["Portico"],"relation":{},"ISSN":["0301-1569","1423-0275"],"issn-type":[{"type":"print","value":"0301-1569"},{"type":"electronic","value":"1423-0275"}],"subject":[],"published":{"date-parts":[[2012]]}}}