Item type |
デフォルトアイテムタイプ(フル)(1) |
公開日 |
2021-04-27 |
タイトル |
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タイトル |
Alternative Splicing Regulator RBM20 and Cardiomyopathy |
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言語 |
en |
作成者 |
Watanabe, Takeshi
Kimura, Akinori
Kuroyanagi, Hidehito
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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 |
権利情報 |
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言語 |
ja |
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権利情報 |
© 2018 Watanabe, Kimura and Kuroyanagi. |
権利情報 |
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言語 |
en |
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権利情報Resource |
https://creativecommons.org/licenses/by/4.0/ |
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権利情報 |
https://creativecommons.org/licenses/by/4.0/ |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
RBM20 |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
dilated cardiomyopathy (DCM) |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
alternative splicing |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
isoform switching |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
mutation |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
arginine/serine (RS)-rich region |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
titin |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
nuclear localization |
内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
RBM20 is a vertebrate-specific RNA-binding protein with two zinc finger (ZnF) domains, one RNA-recognition motif (RRM)-type RNA-binding domain and an arginine/serine (RS)-rich region. RBM20 has initially been identified as one of dilated cardiomyopathy (DCM)-linked genes. RBM20 is a regulator of heart-specific alternative splicing and Rbm20^<ΔRRM> mice lacking the RRM domain are defective in the splicing regulation. The Rbm20^<ΔRRM> mice, however, do not exhibit a characteristic DCM-like phenotype such as dilatation of left ventricles or systolic dysfunction. Considering that most of the RBM20 mutations identified in familial DCM cases were heterozygous missense mutations in an arginine-serine-arginine-serine-proline (RSRSP) stretch whose phosphorylation is crucial for nuclear localization of RBM20, characterization of a knock-in animal model is awaited. One of the major targets for RBM20 is the TTN gene, which is comprised of the largest number of exons in mammals. Alternative splicing of the TTN gene is exceptionally complicated and RBM20 represses >160 of its consecutive exons, yet detailed mechanisms for such extraordinary regulation are to be elucidated. The TTN gene encodes the largest known protein titin, a multi-functional sarcomeric structural protein specific to striated muscles. As titin is the most important factor for passive tension of cardiomyocytes, extensive heart-specific and developmentally regulated alternative splicing of the TTN pre-mRNA by RBM20 plays a critical role in passive stiffness and diastolic function of the heart. In disease models with diastolic dysfunctions, the phenotypes were rescued by increasing titin compliance through manipulation of the Ttn pre-mRNA splicing, raising RBM20 as a potential therapeutic target. |
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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言語 |
en |
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出版者 |
Frontiers Media |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ |
journal article |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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/20.500.12000/48367 |
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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/10.3389/fmolb.2018.00105 |
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/10.3389/fmolb.2018.00105 |
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 |
2296-889X |
収録物名 |
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言語 |
en |
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収録物名 |
Frontiers in Molecular Biosciences |
書誌情報 |
巻 5,
発行日 2018-11-28
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