{"created":"2023-06-20T15:49:24.968908+00:00","id":4006,"links":{},"metadata":{"_buckets":{"deposit":"62e4afea-db9f-4246-b680-097b42b9a72d"},"_deposit":{"created_by":4,"id":"4006","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"4006"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00004006","sets":["1:11"]},"author_link":["12285","12286"],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-02-01","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"50","bibliographicPageStart":"47","bibliographicVolumeNumber":"156","bibliographic_titles":[{"bibliographic_title":"耳鼻咽喉科臨床　補冊 = Practica oto-rhino-laryngologica. Suppl."}]}]},"item_3_description_10":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"浜松医科大学医学部耳鼻咽喉科・頭頸部外科学教室　峯田周幸教授退任記念論文集〜症例から学ぶ〜","subitem_description_type":"Other"},{"subitem_description":"Festschrift for Professor Hiroyuki Mineta In Hornor of His Retirement as Chairman of Hamamatsu University School of Medicine","subitem_description_type":"Other"}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically and clinically heterogeneous. To date, 48 causative genes have been identified. Of these genes, TECTA, WFS1 or KCNQ4 mutations are the most frequently identified in subjects with ADNSHL in Japan. We performed mutation analysis of TECTA, WFS1 and KCNQ4 in a Japanese family with ADNSHL, and identified a heterozygous missense mutation in TECTA. The missense mutation was located in the zonadhesin domain in the alpha-tectorin protein encoded by the gene. The affected family members, including 6-year-old girl, 59-year-old grandmother and 33-year-old father, showed bilateral moderate to severe sensorineural hearing loss. Their audiogram patterns were of the symmetric and descending type. The average annual threshold deterioration of the girl was 0.5 dB/year and that of her father was 0.5 dB/year, indicating that their hearing loss was stable. Their auditory findings were consistent with the established genotype-phenotype correlation of missense mutations in TECTA: missense mutations in the zonadhesin domain cause high-frequency hearing loss; when amino acid residues other than cysteine are affected, the hearing loss is stable.","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"耳鼻咽喉科臨床学会"},{"subitem_publisher":"The Society of Practical Otolaryngology"}]},"item_3_relation_27":{"attribute_name":"医中誌論文ID","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"2021267589","subitem_relation_type_select":"ICHUSHI"}}]},"item_3_relation_28":{"attribute_name":"出版社DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.5631/jibirinsuppl.156.47","subitem_relation_type_select":"DOI"}}]},"item_3_rights_7":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"出版者の許諾を得て掲載"}]},"item_3_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0912-1870","subitem_source_identifier_type":"ISSN"}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"2185-1557","subitem_source_identifier_type":"ISSN"}]},"item_3_version_type_32":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"中西, 啓"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"峯田, 周幸"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-04-08"}],"displaytype":"detail","filename":"耳鼻臨床補冊-156-47.pdf","filesize":[{"value":"758.6 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"耳鼻臨床補冊-156-47.pdf","url":"https://hama-med.repo.nii.ac.jp/record/4006/files/耳鼻臨床補冊-156-47.pdf"},"version_id":"e0c099e5-69ee-45f6-84a5-2c5e96414ff5"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"hearing loss","subitem_subject_scheme":"Other"},{"subitem_subject":"TECTA","subitem_subject_scheme":"Other"},{"subitem_subject":"mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"WFS1","subitem_subject_scheme":"Other"},{"subitem_subject":"KCNQ4","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"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":"TECTA遺伝子変異により発症した非症候群性難聴家系における聴力像の検討","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"TECTA遺伝子変異により発症した非症候群性難聴家系における聴力像の検討","subitem_title_language":"ja"},{"subitem_title":"Evaluation of Auditory Findings in Subjects with Autosomal Dominant Non-Syndromic Hearing Loss Caused by a TECTA Mutation","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["11"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-04-08"},"publish_date":"2022-04-08","publish_status":"0","recid":"4006","relation_version_is_last":true,"title":["TECTA遺伝子変異により発症した非症候群性難聴家系における聴力像の検討"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-08-02T07:35:21.158664+00:00"}