{"created":"2021-03-01T06:11:01.614383+00:00","id":7178,"links":{},"metadata":{"_buckets":{"deposit":"58370df8-1385-48cd-9415-abb94458a1bd"},"_deposit":{"id":"7178","owners":[],"pid":{"revision_id":0,"type":"depid","value":"7178"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:00007178","sets":["461:848:849"]},"author_link":["17332","17333","17334"],"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":"2012-08-10","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"8","bibliographicPageStart":"e40366","bibliographicVolumeNumber":"7","bibliographic_titles":[{"bibliographic_title":"PLOS ONE"}]}]},"item_6_description_19":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"信州大学博士（医学）・学位論文・平成25年1月30日授与（乙第1154号）・宮川 麻衣子","subitem_description_type":"Other"}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Screening for gene mutations in CDH23, which has many exons, has lagged even though it is likely to be an important cause for hearing loss patients. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study. As a first screening, we performed Sanger sequencing using 304 probands compatible with recessive inheritance to find the pathologic mutations. Twenty-six possible mutations were detected to be pathologic in the first screening. For the second screening, using the probes for these 26 mutations, a large cohort of probands (n = 1396) was screened using Taqman amplification-based mutation analysis followed by Sanger sequencing. The hearing loss in a total of 52 families (10 homozygous, 13 compound heterogygous, and 29 heterozygous) was found to be caused by the CDH23 mutations. The majority of the patients showed congenital, high frequency involved, progressive hearing loss. Interestingly, some particular mutations cause late onset moderate hearing loss. The present study is the first to demonstrate the prevalence of CDH23 mutations among non-syndromic hearing loss patients and indicated that mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.","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(8):e40366 (2012)","subitem_description_type":"Other"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"PUBLIC LIBRARY SCIENCE"}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.1371/journal.pone.0040366"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1371/journal.pone.0040366","subitem_relation_type_select":"DOI"}}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Miyagawa,  Maiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nishio,  Shin-ya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Usami,  Shin-ichi"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2015-09-25"}],"displaytype":"detail","filename":"H24Otsu1154_Miyagawa.pdf","filesize":[{"value":"779.9 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"H24Otsu1154_Miyagawa.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/7178/files/H24Otsu1154_Miyagawa.pdf"},"version_id":"b0730e8c-633b-498d-ba0b-2bfb21d521e7"}]},"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":"Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["849"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2014-06-27"},"publish_date":"2014-06-27","publish_status":"0","recid":"7178","relation_version_is_last":true,"title":["Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2022-12-14T04:32:07.843315+00:00"}