{"created":"2023-05-18T10:11:07.312101+00:00","id":2837,"links":{},"metadata":{"_buckets":{"deposit":"a96817ee-d23d-46d1-b4b7-7cd737409099"},"_deposit":{"created_by":5,"id":"2837","owners":[5],"pid":{"revision_id":0,"type":"depid","value":"2837"},"status":"published"},"_oai":{"id":"oai:yamanashi.repo.nii.ac.jp:00002837","sets":["205:206:226"]},"author_link":["13245"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2009","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"24","bibliographicPageStart":"13","bibliographicVolumeNumber":"24","bibliographic_titles":[{"bibliographic_title":"山梨医科学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Yamanashi medical journal","bibliographic_titleLang":"en"}]}]},"item_10001_creator_2":{"attribute_name":"著者名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"瀧山, 嘉久","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"13245","nameIdentifierScheme":"WEKO"}]}]},"item_10001_description_5":{"attribute_name":"内容","attribute_value_mlt":[{"subitem_description":"Machado-Joseph 病(MJD)は当初,ポルトガル領アゾレス諸島出身者に端を発するまれな常染色体優性遺伝性脊髄小脳変性症(ADSCD)であるとされたが,現在では日本でも世界でも最も頻度の高いADSCD であることが知られている。MJD は原因遺伝子(MJD1)内のCAG リピートが異常伸長するポリグルタミン病の仲間であり,MJD1 が同定されてからはその臨床像はこれまでに考えられていたよりもスペクトラムが広いことが判明した。MJD をはじめとするポリグルタミン病について,解明すべき二つの課題があると思われる。一つは原因遺伝子内の伸長CAG リピートの不安定性の分子機構であり,もう一つは分子病態機序である。これらの課題について,最近の研究成果を概説し,治療法開発への展望を述べた。","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_10001_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.34429/00002830","subitem_identifier_reg_type":"JaLC"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"山梨大学医学会","subitem_publisher_language":"ja"}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AA11839837","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1348-5091","subitem_source_identifier_type":"ISSN"}]},"item_10001_text_4":{"attribute_name":"タイトルヨミ","attribute_value_mlt":[{"subitem_text_language":"ja-Kana","subitem_text_value":"ソウセツ マチャド ジョセフ ビョウ ノ リンショウ ブンシ イデンガク"}]},"item_10001_version_type_20":{"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_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-02-27"}],"displaytype":"detail","filename":"AA11839837_24_01_02.pdf","filesize":[{"value":"802.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AA11839837_24_01_02.pdf","objectType":"fulltext","url":"https://yamanashi.repo.nii.ac.jp/record/2837/files/AA11839837_24_01_02.pdf"},"version_id":"269ac4ce-68de-4520-b7d6-b1b8fc56dbaa"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Machado-Joseph 病","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"CAG リピート","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"ポリグルタミン病","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"不安定性","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"病態機序","subitem_subject_language":"ja","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":"<総説>マチャド・ジョセフ病の臨床・分子遺伝学","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"<総説>マチャド・ジョセフ病の臨床・分子遺伝学","subitem_title_language":"ja"}]},"item_type_id":"10001","owner":"5","path":["226"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2010-05-18"},"publish_date":"2010-05-18","publish_status":"0","recid":"2837","relation_version_is_last":true,"title":["<総説>マチャド・ジョセフ病の臨床・分子遺伝学"],"weko_creator_id":"5","weko_shared_id":-1},"updated":"2023-10-11T07:22:46.876726+00:00"}