{"created":"2023-01-20T07:04:46.424336+00:00","id":2001273,"links":{},"metadata":{"_buckets":{"deposit":"7a69b587-24ed-4fb6-b124-57be32c0662e"},"_deposit":{"id":"2001273","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2001273"},"status":"published"},"_oai":{"id":"oai:soar-ir.repo.nii.ac.jp:02001273","sets":["461:462"]},"author_link":[],"control_number":"2001273","item_1628147817048":{"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_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-03-04","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageStart":"16","bibliographicVolumeNumber":"9","bibliographic_titles":[{"bibliographic_title":"Journal of personalized medicine"}]}]},"item_6_description_20":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscle disorders caused by mutations of the DMD gene, which encodes the subsarcolemmal protein dystrophin. In DMD, dystrophin is not expressed due to a disruption in the reading frame of the DMD gene, resulting in a severe phenotype. Becker muscular dystrophy exhibits a milder phenotype, having mutations that maintain the reading frame and allow for the production of truncated dystrophin. To date, various therapeutic approaches for DMD have been extensively developed. However, the pathomechanism is quite complex despite it being a single gene disorder, and dystrophin is expressed not only in a large amount of skeletal muscle but also in cardiac, vascular, intestinal smooth muscle, and nervous system tissue. Thus, the most appropriate therapy would be complementation or restoration of dystrophin expression, such as gene therapy using viral vectors, readthrough therapy, or exon skipping therapy. Among them, exon skipping therapy with antisense oligonucleotides can restore the reading frame and yield the conversion of a severe phenotype to one that is mild. In this paper, I present the significance of molecular diagnosis and the development of mutation-based therapeutic strategies to complement or restore dystrophin expression.","subitem_description_type":"Abstract"}]},"item_6_description_30":{"attribute_name":"資源タイプ（コンテンツの種類）","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_6_description_5":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Journal of personalized medicine 9(1) : 16-(2019)","subitem_description_type":"Other"}]},"item_6_link_3":{"attribute_name":"信州大学研究者総覧へのリンク","attribute_value_mlt":[{"subitem_link_text":"中村, 昭則","subitem_link_url":"https://soar-rd.shinshu-u.ac.jp/profile/ja.uaTUHhkh.html"}]},"item_6_publisher_4":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"MDPI"}]},"item_6_relation_47":{"attribute_name":"PubMed","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"30836656"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://pubmed.ncbi.nlm.nih.gov/30836656/","subitem_relation_type_select":"PMID"}}]},"item_6_relation_48":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"10.3390/jpm9010016"}],"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.3390/jpm9010016","subitem_relation_type_select":"DOI"}}]},"item_6_rights_62":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2019 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/)."}]},"item_6_source_id_35":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2075-4426","subitem_source_identifier_type":"EISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Nakamura, Akinori","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2023-01-20"}],"filename":"18H02577_1.pdf","format":"application/pdf","licensetype":"license_0","mimetype":"application/pdf","url":{"label":"18H02577_1.pdf","url":"https://soar-ir.repo.nii.ac.jp/record/2001273/files/18H02577_1.pdf"},"version_id":"f381c563-f8af-4b7d-9880-cbdebdc49e78"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Duchenne/Becker muscular dystrophy (DMD/BMD)","subitem_subject_scheme":"Other"},{"subitem_subject":"DMD gene","subitem_subject_scheme":"Other"},{"subitem_subject":"dystrophin","subitem_subject_scheme":"Other"},{"subitem_subject":"molecular diagnosis","subitem_subject_scheme":"Other"},{"subitem_subject":"DMD model animal","subitem_subject_scheme":"Other"},{"subitem_subject":"gene therapy","subitem_subject_scheme":"Other"},{"subitem_subject":"readthrough therapy","subitem_subject_scheme":"Other"},{"subitem_subject":"exon skipping therapy","subitem_subject_scheme":"Other"},{"subitem_subject":"antisense oligonucleotide","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"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":"Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["462"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-01-20"},"publish_date":"2023-01-20","publish_status":"0","recid":"2001273","relation_version_is_last":true,"title":["Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-01-20T07:41:30.189320+00:00"}