{"_buckets": {"deposit": "364c38fe-a088-480f-bcd8-5350f2ba0b04"}, "_deposit": {"id": "19015", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "19015"}, "status": "published"}, "_oai": {"id": "oai:soar-ir.repo.nii.ac.jp:00019015", "sets": ["462"]}, "author_link": ["103774", "103775", "103776", "103777", "103778", "103779", "103780"], "item_1628147817048": {"attribute_name": "出版タイプ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_ab4af688f83e57aa", "subitem_version_type": "AM"}]}, "item_6_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2016-12", "bibliographicIssueDateType": "Issued"}, "bibliographicPageEnd": "117", "bibliographicPageStart": "111", "bibliographicVolumeNumber": "148", "bibliographic_titles": [{"bibliographic_title": "THROMBOSIS RESEARCH"}]}]}, "item_6_description_19": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "Epub 2016 Nov 5", "subitem_description_type": "Other"}]}, "item_6_description_20": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles. The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the gamma\u0027-chain, but not the.A-chain. AWestern blot analysis of plasma fibrinogen from our patient revealed an aberrant gamma-chain that migrated slightly faster than the normal B beta-chain. Materials andmethods: To clarify the complex genetic mechanismunderlying Tsukuba I\u0027s hypodysfibrinogenemia induced by nucleotide deletions in two regions, we generated two minigenes incorporating each deletion region, transfected them into Chinese Hamster Ovary (CHO) cells, and analyzed RT-PCR products. We also established CHO cells producing the recombinant variant fibrinogen,gamma\u0027 409.A (Ex-9 deletion). Results and conclusions: Minigene I incorporating the IVS-8 deletion showed two products: a normal splicing product and the unspliced product. Minigene II incorporating the Ex-9 deletion only produced the unspliced product. The established gamma\u0027 409.A-CHOcells secreted variant fibrinogenmore effectively than normal fibrinogen. Therefore, the aberrant splicing products derived from the IVS-8 deletion cause hypofibrinogenemia most likely due to nonsense-mediated mRNA decay and the partial production of normal.A-and gamma\u0027-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma\u0027-chain production (hypofibrinogenemia) and augmented aberrant.\u0027-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. All rights reserved.", "subitem_description_type": "Abstract"}]}, "item_6_description_30": {"attribute_name": "資源タイプ（コンテンツの種類）", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_6_description_5": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "THROMBOSIS RESEARCH. 148:111-117 (2016)", "subitem_description_type": "Other"}]}, "item_6_link_3": {"attribute_name": "信州大学研究者総覧へのリンク", "attribute_value_mlt": [{"subitem_link_text": "Honda, Takayuki", "subitem_link_url": "http://soar-rd.shinshu-u.ac.jp/profile/ja.WeDUHFkh.html"}, {"subitem_link_text": "Okumura, Nobuo", "subitem_link_url": "http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html"}]}, "item_6_link_67": {"attribute_name": "WoS", "attribute_value_mlt": [{"subitem_link_text": "Web of Science", "subitem_link_url": "http://gateway.isiknowledge.com/gateway/Gateway.cgi?\u0026GWVersion=2\u0026SrcAuth=ShinshuUniv\u0026SrcApp=ShinshuUniv\u0026DestLinkType=FullRecord\u0026DestApp=WOS\u0026KeyUT=000391287100020"}]}, "item_6_publisher_4": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "PERGAMON-ELSEVIER SCIENCE LTD"}]}, "item_6_relation_47": {"attribute_name": "PubMed", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "27837696"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://pubmed.ncbi.nlm.nih.gov/27837696", "subitem_relation_type_select": "PMID"}}]}, "item_6_relation_48": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.1016/j.thromres.2016.11.002"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1016/j.thromres.2016.11.002", "subitem_relation_type_select": "DOI"}}]}, "item_6_rights_62": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 2016, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/"}]}, "item_6_select_64": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "author"}]}, "item_6_source_id_35": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0049-3848", "subitem_source_identifier_type": "PISSN"}]}, "item_6_source_id_39": {"attribute_name": "NII ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0049-3848", "subitem_source_identifier_type": "PISSN"}]}, "item_6_text_69": {"attribute_name": "wosonly authkey", "attribute_value_mlt": [{"subitem_text_value": "Frameshift mutation; Hypodysfibrinogenemia; Splicing abnormality; gamma A-chain; gamma \u0027-chain"}]}, "item_6_text_70": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "QUANTITATIVE FIBRINOGEN DEFICIENCY; DEEP INTRONIC MUTATIONS; GAMMA-CHAIN GENE; TO-A MUTATION; MESSENGER-RNA; 1ST IDENTIFICATION; SPLICING MUTATION; BINDING-SITES; AFIBRINOGENEMIA; POLYMERIZATION"}]}, "item_6_textarea_68": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles. The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the gamma\u0027-chain, but not the.A-chain. AWestern blot analysis of plasma fibrinogen from our patient revealed an aberrant gamma-chain that migrated slightly faster than the normal B beta-chain. Materials andmethods: To clarify the complex genetic mechanismunderlying Tsukuba I\u0027s hypodysfibrinogenemia induced by nucleotide deletions in two regions, we generated two minigenes incorporating each deletion region, transfected them into Chinese Hamster Ovary (CHO) cells, and analyzed RT-PCR products. We also established CHO cells producing the recombinant variant fibrinogen,gamma\u0027 409.A (Ex-9 deletion). Results and conclusions: Minigene I incorporating the IVS-8 deletion showed two products: a normal splicing product and the unspliced product. Minigene II incorporating the Ex-9 deletion only produced the unspliced product. The established gamma\u0027 409.A-CHOcells secreted variant fibrinogenmore effectively than normal fibrinogen. Therefore, the aberrant splicing products derived from the IVS-8 deletion cause hypofibrinogenemia most likely due to nonsense-mediated mRNA decay and the partial production of normal.A-and gamma\u0027-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma\u0027-chain production (hypofibrinogenemia) and augmented aberrant.\u0027-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. All rights reserved."}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Mukai, Saki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103774", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nagata, Kazuhiro", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103775", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ikeda, Minami", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103776", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Arai, Shinpei", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103777", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sugano, Mitsutoshi", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103778", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Honda, Takayuki", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103779", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Okumura, Nobuo", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "103780", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2017-11-04"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf", "filesize": [{"value": "900.6 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "© 2016, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/", "licensetype": "license_note", "mimetype": "application/pdf", "size": 900600.0, "url": {"label": "Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf", "url": "https://soar-ir.repo.nii.ac.jp/record/19015/files/Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf"}, "version_id": "c79ec95a-d793-460a-80bd-cabf4704d47f"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Frameshift mutation", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Hypodysfibrinogenemia", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Splicing abnormality", "subitem_subject_scheme": "Other"}, {"subitem_subject": "gamma A-chain", "subitem_subject_scheme": "Other"}, {"subitem_subject": "gamma \u0027-chain", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A", "subitem_title_language": "en"}]}, "item_type_id": "6", "owner": "1", "path": ["462"], "permalink_uri": "http://hdl.handle.net/10091/00019777", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2017-07-05"}, "publish_date": "2017-07-05", "publish_status": "0", "recid": "19015", "relation": {}, "relation_version_is_last": true, "title": ["Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A"], "weko_shared_id": -1}