{"created":"2021-03-01T06:07:40.404648+00:00","id":3840,"links":{},"metadata":{"_buckets":{"deposit":"76b4161a-66ed-4cba-bebc-4663aba6333d"},"_deposit":{"id":"3840","owners":[],"pid":{"revision_id":0,"type":"depid","value":"3840"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00003840","sets":["461:462"]},"author_link":["7436","7437","7438","7439","7440"],"item_1628147817048":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2012-02-24","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicVolumeNumber":"7","bibliographic_titles":[{"bibliographic_title":"PLOS ONE"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing. In the present report, 264 Japanese patients with bilateral sensorineural hearing loss from 33 ENT departments nationwide participated. For these patients, we first applied the Invader assay for screening 47 known mutations of 13 known deafness genes, followed by direct sequencing as necessary. A total of 78 (29.5%) subjects had at least one deafness gene mutation. Mutations were more frequently found in the patients with congenital or early-onset hearing loss, i.e., in those with an awareness age of 0-6 years, mutations were significantly higher (41.8%) than in patients with an older age of awareness (16.0%). Among the 13 genes, mutations in GJB2 and SLC26A4 were mainly found in congenital or early-onset patients, in contrast with mitochondrial mutations (12S rRNA m.1555A>G, tRNA(Leu(UUR)) m.3243A>G), which were predominantly found in older-onset patients. The present method of simultaneous screening of multiple deafness mutations by Invader assay followed by direct sequencing will enable us to detect deafness mutations in an efficient and practical manner for clinical use.","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"PLOS ONE. 7(2):e31276 (2012)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"Usami, Shin-ichi","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.ZmAUHUSC.html"},{"subitem_link_text":"Nishio, Shin-ya","subitem_link_url":"http://soar-rd.shinshu-u.ac.jp/profile/ja.uCSmPpym.html"}]},"item_6_link_67":{"attribute_name":"WoS","attribute_value_mlt":[{"subitem_link_url":"http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000302916800012"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"PUBLIC LIBRARY SCIENCE"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"22384008"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/22384008","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1371/journal.pone.0031276"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1371/journal.pone.0031276","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright© 2012 Usami et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited."}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1932-6203","subitem_source_identifier_type":"PISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Usami,  Shin-ichi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nishio,  Shin-ya","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nagano,  Makoto","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Abe,  Satoko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamaguchi,  Toshikazu","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-24"}],"displaytype":"detail","filename":"Simultaneous_Screening_Multiple_Mutations_Invader.pdf","filesize":[{"value":"223.3 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Simultaneous_Screening_Multiple_Mutations_Invader.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/3840/files/Simultaneous_Screening_Multiple_Mutations_Invader.pdf"},"version_id":"31c0273f-25a1-43da-b0a2-3ffed44c4199"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2012-09-21"},"publish_date":"2012-09-21","publish_status":"0","recid":"3840","relation_version_is_last":true,"title":["Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T04:39:56.816013+00:00"}