{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:37:49Z","timestamp":1745469469275,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2011]]},"abstract":"<i>Background:<\/i> The relation with <i>SNF5<\/i> mutation and chromosome 22 abnormalities is not clear in hematological neoplasms. <i>Methods:<\/i> To elucidate the relevance of the <i>SNF5 <\/i>gene on 22q11.2, karyotypes were reviewed in 283 hematological neoplasms. Loss of heterozygosity (LOH) on 22q was analyzed in 21 plasma cell myelomas without chromosome 22 abnormalities. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) on the<i> SNF5<\/i> gene was analyzed in 8 hematological neoplasms with 22q- or -22, and 8 chronic myelogenous leukemias (CMLs) in blast crisis. Fluorescence in situ hybridization (FISH) was performed in 1 myelodysplastic syndrome (MDS) case with -22,del(22)(q11.2 q13). <i>Results:<\/i> 22q- or -22 was observed in 36 patients. LOH on 22q was detected in 1 of the 21 myelomas. Mobility shifts were found by PCR-SSCP analysis in 2 CMLs, whereas sequence analysis showed polymorphisms. FISH analysis revealed the <i>SNF5<\/i> gene was not deleted in the MDS case. <i>Conclusion:<\/i> These results suggest that alterations of the <i>SNF5 <\/i>gene are rare in hematological neoplasms with chromosome 22 abnormalities. Haploinsufficiency may contribute to the development of these neoplasms.<\/jats:p>","DOI":"10.1159\/000324932","type":"journal-article","created":{"date-parts":[[2011,4,13]],"date-time":"2011-04-13T13:32:14Z","timestamp":1302701534000},"page":"69-75","source":"Crossref","is-referenced-by-count":1,"title":["Absence of Mutations on the <i>SNF5<\/i> Gene in Hematological Neoplasms with Chromosome 22 Abnormalities"],"prefix":"10.1159","volume":"126","author":[{"given":"Naoki","family":"Mori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Okada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiko","family":"Motoji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2011,4,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1659741"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.68.4.820"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.7801128"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F23.7.1127"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1101%2Fgad.10.17.2117"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2F28212"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F8.13.2359"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.250492697"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS1535-6108%2802%2900185-X"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2FS0165-4608%2800%2900274-0"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2Fs12185-008-0027-1"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1992.tb08213.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0959-437X%2800%2900175-1"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fgcc.10078"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2F13793"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood.V98.7.2229"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/324932","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/324932","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/324932","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:35:40Z","timestamp":1745436940000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000324932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2011,8,1]]},"published-print":{"date-parts":[[2011,8,11]]}},"URL":"https:\/\/doi.org\/10.1159\/000324932","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2011]]}}}