{"created":"2023-06-19T11:42:30.228962+00:00","id":11744,"links":{},"metadata":{"_buckets":{"deposit":"08431e9d-bc2d-4052-a0d1-094bd11fd83d"},"_deposit":{"created_by":15,"id":"11744","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"11744"},"status":"published"},"_oai":{"id":"oai:mie-u.repo.nii.ac.jp:00011744","sets":["334:627:1692670396313"]},"author_link":["33870","33871","33872","33873"],"item_8_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2016-09-27","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":"臨床的に本症が疑われる患者21名を対象に、電子顕微鏡にて１００本あるいはそれに近い多数の線毛を観察することにより、１０名の患者で明らかな線毛構造の異常を見出した。また、臨床的に本症が疑われる患者21名を対象に遺伝子検査を行い、４名で病的変異と考えられる遺伝子変異を見出した。具体的には、ダイニン外腕の欠損がみられる男児にDNAH5の複合ヘテロ変異が、ダイニン外腕欠損のみられる同胞例でDNAI1 のホモの変異が、構造上異常のない男児にDNAH11にヘテロのミスセンス変異がみられた。これら４つの変異は全て既知遺伝子であったが、新規変異であり、日本人に特有の遺伝子変異と考えられた。","subitem_description_type":"Abstract"},{"subitem_description":"The diagnosis of primary ciliary dyskinesia (PCD) requires the presence of the characteristic clinical phenotypes and either: 1) specific ciliary ultrastructural defects identified by transmission electron microscopy; or 2) identification of mutation in one of the genes known to be associated with PCD. The diagnosis of PCD is not easy. We have identified ciliary ultrastuructual defects in ten out of 21 PCD suspected patients, by assessing about 100 cilia per patient before reaching a diagnosis. Moreover, we have conducted genetic analysis in 21 patients with suspicion of PCD and found disease causing mutations in four patients. The analysis of their genomic DNA revealed compound heterozygous mutations in DNAH5 in one patient, homozygous mutations in DNAI1 in two siblings, and heterozygous missense mutation in DNAH1 in one patient. Although these four mutations we found were from known PCD causing genes, all the four were novel mutations and probably unique to Japanese populations.","subitem_description_type":"Abstract"}]},"item_8_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"2013年度～2015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":"25462662","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":"資源タイプ（三重大）","attribute_value_mlt":[{"subitem_text_value":"Kaken / 科研費報告書"}]},"item_8_version_type_15":{"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":"竹内, 万彦","creatorNameLang":"ja"},{"creatorName":"タケウチ, カズヒコ","creatorNameLang":"ja-Kana"},{"creatorName":"TAKEUCHI, Kazuhiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"北野, 雅子","creatorNameLang":"ja"},{"creatorName":"キタノ, マサコ","creatorNameLang":"ja-Kana"},{"creatorName":"KITANO, Masako","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"藤澤, 隆夫","creatorNameLang":"ja"},{"creatorName":"フジサワ, タカオ","creatorNameLang":"ja-Kana"},{"creatorName":"FUJISAWA, Takao","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"中谷, 中","creatorNameLang":"ja"},{"creatorName":"ナカタニ, カナメ","creatorNameLang":"ja-Kana"},{"creatorName":"NAKATANI, Kaname","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":"2018-01-12"}],"displaytype":"detail","filename":"30K18159.pdf","filesize":[{"value":"259.4 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"30K18159","url":"https://mie-u.repo.nii.ac.jp/record/11744/files/30K18159.pdf"},"version_id":"e4345e87-7f6f-4d88-a73b-0b4e3c8d1977"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"線毛","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子変異","subitem_subject_scheme":"Other"},{"subitem_subject":"電子顕微鏡","subitem_subject_scheme":"Other"},{"subitem_subject":"一酸化窒素","subitem_subject_scheme":"Other"},{"subitem_subject":"常染色体劣性遺伝","subitem_subject_scheme":"Other"},{"subitem_subject":"滲出性中耳炎","subitem_subject_scheme":"Other"},{"subitem_subject":"慢性副鼻腔炎","subitem_subject_scheme":"Other"},{"subitem_subject":"気管支拡張症","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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"原発性線毛運動不全症の診断精度向上に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"原発性線毛運動不全症の診断精度向上に関する研究","subitem_title_language":"ja"},{"subitem_title":"Research in the improvement in diagnostic accuracy for primary ciliary dyskinesia","subitem_title_language":"en"}]},"item_type_id":"8","owner":"15","path":["1692670396313"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2018-01-12"},"publish_date":"2018-01-12","publish_status":"0","recid":"11744","relation_version_is_last":true,"title":["原発性線毛運動不全症の診断精度向上に関する研究"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-11-08T00:45:30.675646+00:00"}