{"_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": ["461:462"]}, "author_link": ["103774", "103775", "103776", "103777", "103778", "103779", "103780"], "item_1628147817048": {"attribute_name": "\u51fa\u7248\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_ab4af688f83e57aa", "subitem_version_type": "AM"}]}, "item_6_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "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": "\u5185\u5bb9\u8a18\u8ff0", "attribute_value_mlt": [{"subitem_description": "Epub 2016 Nov 5", "subitem_description_type": "Other"}]}, "item_6_description_20": {"attribute_name": "\u6284\u9332", "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": "\u8cc7\u6e90\u30bf\u30a4\u30d7\uff08\u30b3\u30f3\u30c6\u30f3\u30c4\u306e\u7a2e\u985e\uff09", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_6_description_5": {"attribute_name": "\u5f15\u7528", "attribute_value_mlt": [{"subitem_description": "THROMBOSIS RESEARCH. 148:111-117 (2016)", "subitem_description_type": "Other"}]}, "item_6_link_3": {"attribute_name": "\u4fe1\u5dde\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7\u3078\u306e\u30ea\u30f3\u30af", "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": "\u51fa\u7248\u8005", "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": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 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": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "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": "\u8457\u8005", "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": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "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": "\u00a9 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": "\u30ad\u30fc\u30ef\u30fc\u30c9", "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": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "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": "\u30bf\u30a4\u30c8\u30eb", "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": ["461/462"], "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}