{"created":"2023-06-19T08:46:22.575042+00:00","id":1891,"links":{},"metadata":{"_buckets":{"deposit":"11f3c4e3-58cc-49c2-b5d8-165d1a230253"},"_deposit":{"created_by":25,"id":"1891","owners":[25],"pid":{"revision_id":0,"type":"depid","value":"1891"},"status":"published"},"_oai":{"id":"oai:ycu.repo.nii.ac.jp:00001891","sets":["4:71:396:418"]},"author_link":["3496"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-10-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"643","bibliographicPageStart":"635","bibliographicVolumeNumber":"70","bibliographic_titles":[{"bibliographic_title":"横浜医学"},{"bibliographic_title":"Yokohama Medical Journal","bibliographic_titleLang":"en"}]}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"希少遺伝性疾患の原因は，現在でも全体の40－60％程度の疾患について未解明のままである． 疾患を引き起こす遺伝子変異の種類やサイズは多様で全てを網羅的にカバーするゲノム解析技術は存 在しない．従って未解明の疾患については既存の解析技術の穴をうめるような新規解析技術の適用が 有用である．実際，染色体核型分析，FISH法，キャピラリーシーケンサー，マイクロアレイ，次世 代ショートリードシーケンサーに代表される染色体・ゲノム解析法はそれぞれ異なる解像度を有し， 新規解析技術の登場が新たな種類・サイズの病的変化を明らかにしてきた．本稿ではこれらの解析技 術を駆使して筆者が行ってきた遺伝性疾患の原因・病態解明を目的とした多角的取り組みについて紹 介する．","subitem_description_type":"Abstract"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"横浜市立大学医学会"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0372-7726","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"水口, 剛"},{"creatorName":"ミズグチ, タケシ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]}]},"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":"06_Mizuguchi.pdf","filesize":[{"value":"2.7 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"横浜医学70巻4号（水口　剛）","url":"https://ycu.repo.nii.ac.jp/record/1891/files/06_Mizuguchi.pdf"},"version_id":"8d423257-9cb1-47ef-8d0f-eb3bc22fe2ec"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ポジショナルクローニング｜次世代シークエンサー｜ 全エクソーム解析｜ Hi-C ｜ロングリードシーケンサー","subitem_subject_scheme":"Other"},{"subitem_subject":"positional cloning｜next generation sequencer｜whole exome sequencing｜Hi-C｜long-read sequencer","subitem_subject_language":"en","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":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"遺伝性疾患の原因遺伝子単離と ゲノム異常発生分子機構に関する研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝性疾患の原因遺伝子単離と ゲノム異常発生分子機構に関する研究"},{"subitem_title":"IDENTIFICATION OF DISEASE-CAUSING GENES AND ANALYSIS OF MOLECULAR MECHANISMS FOR GENOMIC ALTERATIONS","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"25","path":["418"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-02-27"},"publish_date":"2020-02-27","publish_status":"0","recid":"1891","relation_version_is_last":true,"title":["遺伝性疾患の原因遺伝子単離と ゲノム異常発生分子機構に関する研究"],"weko_creator_id":"25","weko_shared_id":-1},"updated":"2023-06-19T09:30:57.175563+00:00"}