{"created":"2023-12-13T23:54:10.342397+00:00","id":2000196,"links":{},"metadata":{"_buckets":{"deposit":"4de360b3-91c1-4140-90b0-23af2d05d095"},"_deposit":{"created_by":15,"id":"2000196","owner":"15","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"2000196"},"status":"published"},"_oai":{"id":"oai:mie-u.repo.nii.ac.jp:02000196","sets":["334:627:1701929182893"]},"author_link":[],"control_number":"2000196","item_8_biblio_info_6":{"attribute_name":"bibliographic_information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-05-13","bibliographicIssueDateType":"Issued"}}]},"item_8_description_14":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_8_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"原発性線毛運動不全症は線毛に関連する遺伝子の病的バリアントにより、慢性鼻副鼻腔炎、中耳炎、気管支拡張症、内臓逆位などをきたす遺伝性疾患である。約５０の原因遺伝子が知られているが、本邦での原因遺伝子の頻度は不明であった。原因遺伝子は人種によって異なることが知られており、本邦における原因遺伝子を効率よく明らかにする目的で、３２の既知遺伝子からなるパネルにて検索し、それで不明の場合、全エクソーム解析にて解析した。その結果、DRC1の両アレルの欠損が最も多く、次にDNAH5が多いことが明らかになった。DRC1は他の人種では頻度が低く、本邦あるいは東アジアに特徴的な原因遺伝子であると推定される。","subitem_description_type":"Abstract"},{"subitem_description":"Primary ciliary dyskinesia is a hereditary disease that causes chronic nasal sinusitis, otitis media, bronchiectasis, and situs inversus due to pathogenic variants of cilia-related genes. About 50 causative genes are known, but the frequency of causative genes in Japan had been unknown. It is known that the causative gene differs depending on the race, and in order to clarify the causative gene in Japan efficiently, gene analysis by a panel consisting of 32known genes, followed by whole exosome analysis in case the panel failed to reveal the causative genes, was performed. As a result, it was clarified that the deletion of both alleles of DRC1 was the most frequent gene variant, followed by DNAH5. DRC1 is rare in other races and is presumed to be the causative gene characteristic of Japan or East Asia.","subitem_description_type":"Abstract"}]},"item_8_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"2019年度～2021年度科学研究費補助金(基盤研究(C))研究成果報告書","subitem_description_type":"Other"}]},"item_8_description_64":{"attribute_name":"科研費番号","attribute_value_mlt":[{"subitem_description":"19K09886","subitem_description_type":"Other"}]},"item_8_publisher_30":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"三重大学"}]},"item_8_text_31":{"attribute_name":"出版者（ヨミ）","attribute_value_mlt":[{"subitem_text_value":"ミエダイガク"}]},"item_8_text_65":{"attribute_name":"item_8_text_65","attribute_value_mlt":[{"subitem_text_value":"Kaken / 科研費報告書"}]},"item_8_version_type_15":{"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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"竹内, 万彦","creatorNameLang":"ja"},{"creatorName":"TAKEUCHI, Kazuhiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"北野, 雅子","creatorNameLang":"ja"},{"creatorName":"KITANO, Masako","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"藤澤, 隆夫","creatorNameLang":"ja"},{"creatorName":"FUJISAWA, Takao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"中谷, 中","creatorNameLang":"ja"},{"creatorName":"NAKATANI, Kaname","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2023-12-14"}],"filename":"2023RP0033.pdf","filesize":[{"value":"242 KB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"url":"https://mie-u.repo.nii.ac.jp/record/2000196/files/2023RP0033.pdf"},"version_id":"16a329c1-c58c-4ba6-9865-0e9be41f28f8"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"線毛","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"ゲノム","subitem_subject_scheme":"Other"},{"subitem_subject":"パネル","subitem_subject_scheme":"Other"},{"subitem_subject":"エクソーム","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"item_resource_type","attribute_value_mlt":[{"resourcetype":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"遺伝子パネルと全エクソーム解析による原発性線毛運動不全症の原因遺伝子の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝子パネルと全エクソーム解析による原発性線毛運動不全症の原因遺伝子の解析","subitem_title_language":"ja"},{"subitem_title":"Analysis of the disease causing genes of primary ciliary dyskinesia by gene panel and whole exosome analysis","subitem_title_language":"en"}]},"item_type_id":"8","owner":"15","path":["1701929182893"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-12-14"},"publish_date":"2023-12-14","publish_status":"0","recid":"2000196","relation_version_is_last":true,"title":["遺伝子パネルと全エクソーム解析による原発性線毛運動不全症の原因遺伝子の解析"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2024-09-20T02:28:26.911180+00:00"}