Item type |
デフォルトアイテムタイプ(フル)(1) |
公開日 |
2020-04-15 |
タイトル |
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タイトル |
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay |
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言語 |
en |
作成者 |
Horinouchi, Tomoko
Nozu, Kandai
Yamamura, Tomohiko
Minamikawa, Shogo
Nagano, China
Sakakibara, Nana
Nakanishi, Koichi
Shima, Yuko
Morisada, Naoya
Ishiko, Shinya
Aoto, Yuya
Nagase, Hiroaki
Takeda, Hiroki
Rossanti, Rini
Kaito, Hiroshi
Matsuo, Masafumi
Iijima, Kazumoto
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アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
権利情報 |
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言語 |
en |
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権利情報 |
Creative Commons Attribution 4.0 International License |
権利情報 |
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言語 |
en |
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権利情報Resource |
http://creativecommons.org/licenses/by/4.0/ |
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権利情報 |
http://creativecommons.org/licenses/by/4.0/ |
内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always available. We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was identified by us and six were found in the Human Gene Mutation Database. The minigene assay revealed exon skipping in four variants, exon skipping and a 10-bp insertion in one variant, and no change in one variant, which appeared not to be pathogenic. For one variant, our assay did not work. The results of all three cases for which transcript data were available were consistent with our assay results. Our findings may help to increase the accuracy of genetic test results and clarify the mechanisms causing aberrant splicing. |
内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
論文 |
出版者 |
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出版者 |
Springer Nature |
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言語 |
en |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
出版タイプ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
識別子 |
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識別子 |
http://hdl.handle.net/20.500.12000/45627 |
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識別子タイプ |
HDL |
関連情報 |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1038/s41598-019-48990-9 |
関連情報 |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1038/s41598-019-48990-9 |
収録物識別子 |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
2045-2322 |
収録物名 |
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収録物名 |
Scientific Reports |
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言語 |
en |
書誌情報 |
巻 9,
号 12696,
発行日 2019-09-03
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