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j.stemcr.2019.06.007.pdf | 2.23 MB | Adobe PDF | 見る/開く |
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dc.contributor.author | Yoshinaga, Daisuke | en |
dc.contributor.author | Baba, Shiro | en |
dc.contributor.author | Makiyama, Takeru | en |
dc.contributor.author | Shibata, Hirofumi | en |
dc.contributor.author | Hirata, Takuya | en |
dc.contributor.author | Akagi, Kentaro | en |
dc.contributor.author | Matsuda, Koichi | en |
dc.contributor.author | Kohjitani, Hirohiko | en |
dc.contributor.author | Wuriyanghai, Yimin | en |
dc.contributor.author | Umeda, Katsutsugu | en |
dc.contributor.author | Yamamoto, Yuta | en |
dc.contributor.author | Conklin, Bruce R. | en |
dc.contributor.author | Horie, Minoru | en |
dc.contributor.author | Takita, Junko | en |
dc.contributor.author | Heike, Toshio | en |
dc.contributor.alternative | 吉永, 大介 | ja |
dc.contributor.alternative | 馬場, 志郎 | ja |
dc.contributor.alternative | 牧山, 武 | ja |
dc.contributor.alternative | 柴田, 洋史 | ja |
dc.contributor.alternative | 赤木, 健太郎 | ja |
dc.contributor.alternative | 松田, 浩一 | ja |
dc.contributor.alternative | 糀谷, 泰彦 | ja |
dc.contributor.alternative | 梅田, 雄嗣 | ja |
dc.contributor.alternative | 滝田, 順子 | ja |
dc.contributor.alternative | 平家, 俊男 | ja |
dc.date.accessioned | 2020-02-14T07:50:14Z | - |
dc.date.available | 2020-02-14T07:50:14Z | - |
dc.date.issued | 2019-08-13 | - |
dc.identifier.issn | 2213-6711 | - |
dc.identifier.uri | http://hdl.handle.net/2433/245674 | - |
dc.description.abstract | For long QT syndrome (LQTS), recent progress in genome-sequencing technologies enabled the identification of rare genomic variants with diagnostic, prognostic, and therapeutic implications. However, pathogenic stratification of the identified variants remains challenging, especially in variants of uncertain significance. This study aimed to propose a phenotypic cell-based diagnostic assay for identifying LQTS to recognize pathogenic variants in a high-throughput manner suitable for screening. We investigated the response of LQT2-induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) following IKr blockade using a multi-electrode array, finding that the response to IKr blockade was significantly smaller than in Control-iPSC-CMs. Furthermore, we found that LQT1-iPSC-CMs and LQT3-iPSC-CMs could be distinguished from Control-iPSC-CMs by IKs blockade and INa blockade, respectively. This strategy might be helpful in compensating for the shortcomings of genetic testing of LQTS patients. | en |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Elsevier BV | en |
dc.rights | © 2019 The Author(s). This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). | en |
dc.subject | long QT syndrome | en |
dc.subject | induced pluripotent stem cell | en |
dc.subject | phenotype-based diagnosis | en |
dc.subject | multi-electrode array | en |
dc.subject | genome editing | en |
dc.title | Phenotype-Based High-Throughput Classification of Long QT Syndrome Subtypes Using Human Induced Pluripotent Stem Cells | en |
dc.type | journal article | - |
dc.type.niitype | Journal Article | - |
dc.identifier.jtitle | Stem cell reports | en |
dc.identifier.volume | 13 | - |
dc.identifier.issue | 2 | - |
dc.identifier.spage | 394 | - |
dc.identifier.epage | 404 | - |
dc.relation.doi | 10.1016/j.stemcr.2019.06.007 | - |
dc.textversion | publisher | - |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Cardiovascular Disease, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Cardiovascular Disease, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Cardiovascular Disease, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Cardiovascular Disease, Graduate School of Medicine, Kyoto University | en |
dc.address | Gladstone Institute of Cardiovascular Disease, University of California San Francisco・Departments of Medicine and Pharmacology, University of California San Francisco | en |
dc.address | Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.address | Department of Pediatrics, Graduate School of Medicine, Kyoto University | en |
dc.identifier.pmid | 31378668 | - |
dcterms.accessRights | open access | - |
datacite.awardNumber | JP17K10141 | - |
datacite.awardNumber | 25461054 | - |
datacite.awardNumber | 17930004 | - |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName | 日本学術振興会 | ja |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
jpcoar.funderName.alternative | Japan Society for the Promotion of Science (JSPS) | en |
出現コレクション: | 学術雑誌掲載論文等 |
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