{"_buckets": {"deposit": "8dbbca8e-bba1-43b7-856c-fefa4efc9be8"}, "_deposit": {"id": "2011118", "owners": [1], "pid": {"revision_id": 0, "type": "depid", "value": "2011118"}, "status": "published"}, "_oai": {"id": "oai:u-ryukyu.repo.nii.ac.jp:02011118", "sets": ["1642838338003", "1642838407795"]}, "author_link": [], "item_1617186331708": {"attribute_name": "Title", "attribute_value_mlt": [{"subitem_1551255647225": "Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay", "subitem_1551255648112": "en"}]}, "item_1617186419668": {"attribute_name": "Creator", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Horinouchi, Tomoko", "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": "Ishimori, Shingo", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Kaito, Hiroshi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Matsuo, Masafumi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Iijima, Kazumoto", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nozu, Kandai", "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"}, {"subitem_1522650717957": "en", "subitem_1522650727486": "https://creativecommons.org/licenses/by/4.0/", "subitem_1522651041219": "https://creativecommons.org/licenses/by/4.0/"}]}, "item_1617186609386": {"attribute_name": "Subject", "attribute_value_mlt": [{"subitem_1522299896455": "en", "subitem_1522300014469": "Other", "subitem_1523261968819": "aberrant splicing"}, {"subitem_1522299896455": "en", "subitem_1522300014469": "Other", "subitem_1523261968819": "mild phenotype"}, {"subitem_1522299896455": "en", "subitem_1522300014469": "Other", "subitem_1523261968819": "splicing assay"}, {"subitem_1522299896455": "en", "subitem_1522300014469": "Other", "subitem_1523261968819": "synonymous variant"}, {"subitem_1522299896455": "en", "subitem_1522300014469": "Other", "subitem_1523261968819": "X-linked Alport syndrome"}]}, "item_1617186626617": {"attribute_name": "Description", "attribute_value_mlt": [{"subitem_description": "Background: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens. Methods: In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. The variants were c.876 A\u003eT (p.Gly292=), c.2358 A\u003eG (p.Pro786=), and c.3906 A\u003eG (p.Gln1302=). Results: The results from our hybrid minigene assay were sufficient to predict splicing abnormalities; c.876 A\u003eT cause 17-bp del and 35-bp del, c.2358 A\u003eG cause exon 29 skipping, c.3906 A\u003eG cause exon 42 skipping, which are very likely to cause pathogenicity. Further, patients carrying c.2358 A\u003eG exhibited a mild phenotype that may have been associated with the presence of both normal and abnormally spliced transcripts. Conclusion: The minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.", "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": "Wiley Open Access"}]}, "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/20.500.12000/46926"}]}, "item_1617186920753": {"attribute_name": "Source Identifier", "attribute_value_mlt": [{"subitem_1522646500366": "ISSN", "subitem_1522646572813": "2324-9269"}]}, "item_1617186941041": {"attribute_name": "Source Title", "attribute_value_mlt": [{"subitem_1522650068558": "en", "subitem_1522650091861": "Molecular Genetics and Genomic Medicine"}]}, "item_1617187056579": {"attribute_name": "Bibliographic Information", "attribute_value_mlt": [{"bibliographicIssueNumber": "8", "bibliographicVolumeNumber": "8"}]}, "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/10.1002/mgg3.1342"}}, {"subitem_1522306287251": {"subitem_1522306382014": "DOI", "subitem_1522306436033": "https://doi.org/10.1002/mgg3.1342"}}]}, "item_1617605131499": {"attribute_name": "File", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_access", "download_preview_message": "", "file_order": 0, "filename": "mgg3.1342.pdf", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "url": {"objectType": "fulltext", "url": "https://u-ryukyu.repo.nii.ac.jp/record/2011118/files/mgg3.1342.pdf"}, "version_id": "771db0db-2420-4d7e-ad9f-2e2843bdddd2"}]}, "item_title": "Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay", "item_type_id": "15", "owner": "1", "path": ["1642838338003", "1642838407795"], "permalink_uri": "http://hdl.handle.net/20.500.12000/46926", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2020-10-09"}, "publish_date": "2020-10-09", "publish_status": "0", "recid": "2011118", "relation": {}, "relation_version_is_last": true, "title": ["Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay"], "weko_shared_id": -1}