ログイン
言語:

WEKO3

  • トップ
  • ランキング
To
lat lon distance
To

Field does not validate



インデックスリンク

インデックスツリー

メールアドレスを入力してください。

WEKO

One fine body…

WEKO

One fine body…

アイテム

{"_buckets": {"deposit": "b726b005-2ddd-4b9d-9162-f1961c2168f9"}, "_deposit": {"id": "2012286", "owners": [1], "pid": {"revision_id": 0, "type": "depid", "value": "2012286"}, "status": "published"}, "_oai": {"id": "oai:u-ryukyu.repo.nii.ac.jp:02012286", "sets": ["1642838338003", "1642838407795"]}, "author_link": [], "item_1617186331708": {"attribute_name": "Title", "attribute_value_mlt": [{"subitem_1551255647225": "Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay", "subitem_1551255648112": "en"}]}, "item_1617186419668": {"attribute_name": "Creator", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Horinouchi, Tomoko", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nozu, Kandai", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Yamamura, Tomohiko", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Minamikawa, Shogo", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nagano, China", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Sakakibara, Nana", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nakanishi, Koichi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Shima, Yuko", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Morisada, Naoya", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Ishiko, Shinya", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Aoto, Yuya", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nagase, Hiroaki", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Takeda, Hiroki", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Rossanti, Rini", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Kaito, Hiroshi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Matsuo, Masafumi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Iijima, Kazumoto", "creatorNameLang": "en"}]}]}, "item_1617186476635": {"attribute_name": "Access Rights", "attribute_value_mlt": [{"subitem_1522299639480": "open access", "subitem_1600958577026": "http://purl.org/coar/access_right/c_abf2"}]}, "item_1617186499011": {"attribute_name": "Rights", "attribute_value_mlt": [{"subitem_1522650717957": "en", "subitem_1522651041219": "Creative Commons Attribution 4.0 International License"}, {"subitem_1522650717957": "en", "subitem_1522650727486": "http://creativecommons.org/licenses/by/4.0/", "subitem_1522651041219": "http://creativecommons.org/licenses/by/4.0/"}]}, "item_1617186626617": {"attribute_name": "Description", "attribute_value_mlt": [{"subitem_description": "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.", "subitem_description_type": "Other"}, {"subitem_description": "\u8ad6\u6587", "subitem_description_type": "Other"}]}, "item_1617186643794": {"attribute_name": "Publisher", "attribute_value_mlt": [{"subitem_1522300295150": "en", "subitem_1522300316516": "Springer Nature"}]}, "item_1617186702042": {"attribute_name": "Language", "attribute_value_mlt": [{"subitem_1551255818386": "eng"}]}, "item_1617186783814": {"attribute_name": "Identifier", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/20.500.12000/45627"}]}, "item_1617186920753": {"attribute_name": "Source Identifier", "attribute_value_mlt": [{"subitem_1522646500366": "ISSN", "subitem_1522646572813": "2045-2322"}]}, "item_1617186941041": {"attribute_name": "Source Title", "attribute_value_mlt": [{"subitem_1522650068558": "en", "subitem_1522650091861": "Scientific Reports"}]}, "item_1617187056579": {"attribute_name": "Bibliographic Information", "attribute_value_mlt": [{"bibliographicIssueNumber": "12696", "bibliographicVolumeNumber": "9"}]}, "item_1617258105262": {"attribute_name": "Resource Type", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_1617265215918": {"attribute_name": "Version Type", "attribute_value_mlt": [{"subitem_1522305645492": "VoR", "subitem_1600292170262": "http://purl.org/coar/version/c_970fb48d4fbd8a85"}]}, "item_1617353299429": {"attribute_name": "Relation", "attribute_value_mlt": [{"subitem_1522306287251": {"subitem_1522306382014": "DOI", "subitem_1522306436033": "https://doi.org/10.1038/s41598-019-48990-9"}}, {"subitem_1522306287251": {"subitem_1522306382014": "DOI", "subitem_1522306436033": "https://doi.org/10.1038/s41598-019-48990-9"}}]}, "item_1617605131499": {"attribute_name": "File", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_access", "download_preview_message": "", "file_order": 0, "filename": "s41598-019-48990-9.pdf", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "url": {"objectType": "fulltext", "url": "https://u-ryukyu.repo.nii.ac.jp/record/2012286/files/s41598-019-48990-9.pdf"}, "version_id": "91f6a8b7-2d90-4610-8888-34a10b199454"}]}, "item_title": "Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay", "item_type_id": "15", "owner": "1", "path": ["1642838338003", "1642838407795"], "permalink_uri": "http://hdl.handle.net/20.500.12000/45627", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-04-15"}, "publish_date": "2020-04-15", "publish_status": "0", "recid": "2012286", "relation": {}, "relation_version_is_last": true, "title": ["Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay"], "weko_shared_id": -1}
  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

http://hdl.handle.net/20.500.12000/45627
http://hdl.handle.net/20.500.12000/45627
d980a55f-0be0-444c-88e6-eba239101165
名前 / ファイル ライセンス アクション
s41598-019-48990-9.pdf s41598-019-48990-9.pdf
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
タイトル Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
言語 en
作成者 Horinouchi, Tomoko

× Horinouchi, Tomoko

en Horinouchi, Tomoko

Nozu, Kandai

× Nozu, Kandai

en Nozu, Kandai

Yamamura, Tomohiko

× Yamamura, Tomohiko

en Yamamura, Tomohiko

Minamikawa, Shogo

× Minamikawa, Shogo

en Minamikawa, Shogo

Nagano, China

× Nagano, China

en Nagano, China

Sakakibara, Nana

× Sakakibara, Nana

en Sakakibara, Nana

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

Shima, Yuko

× Shima, Yuko

en Shima, Yuko

Morisada, Naoya

× Morisada, Naoya

en Morisada, Naoya

Ishiko, Shinya

× Ishiko, Shinya

en Ishiko, Shinya

Aoto, Yuya

× Aoto, Yuya

en Aoto, Yuya

Nagase, Hiroaki

× Nagase, Hiroaki

en Nagase, Hiroaki

Takeda, Hiroki

× Takeda, Hiroki

en Takeda, Hiroki

Rossanti, Rini

× Rossanti, Rini

en Rossanti, Rini

Kaito, Hiroshi

× Kaito, Hiroshi

en Kaito, Hiroshi

Matsuo, Masafumi

× Matsuo, Masafumi

en Matsuo, Masafumi

Iijima, Kazumoto

× Iijima, Kazumoto

en Iijima, Kazumoto

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0 International License
言語 en
権利情報Resource http://creativecommons.org/licenses/by/4.0/
権利情報 http://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
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.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45627
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-019-48990-9
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-019-48990-9
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2045-2322
収録物名
言語 en
収録物名 Scientific Reports
書誌情報
巻 9, 号 12696
戻る
0
views
See details
Views

Versions

Ver.1 2022-02-02 02:04:39.560483
Show All versions

Share

Mendeley Twitter Facebook Print Addthis

Cite as

エクスポート

OAI-PMH
  • OAI-PMH JPCOAR
  • OAI-PMH DublinCore
  • OAI-PMH DDI
Other Formats
  • JSON

確認


Powered by WEKO3


Powered by WEKO3