{"created":"2023-05-15T16:11:39.822353+00:00","id":42068,"links":{},"metadata":{"_buckets":{"deposit":"75d9e940-6335-405f-9206-014503c302ff"},"_deposit":{"created_by":25,"id":"42068","owners":[25],"pid":{"revision_id":0,"type":"depid","value":"42068"},"status":"published"},"_oai":{"id":"oai:shinshu.repo.nii.ac.jp:00042068","sets":["2668"]},"author_link":["164727","164726","164728","164729","164725","164722","164723","164724"],"item_20002_biblio_info_27":{"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_20002_creator_3":{"attribute_name":"作成者(その他言語)","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Mukai, Saki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nagata, Kazuhiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ikeda, Minami"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Arai, Shinpei"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sugano, Mitsutoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Honda, Takayuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Okumura, Nobuo"}],"nameIdentifiers":[{}]}]},"item_20002_date_19":{"attribute_name":"日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2017-07-05","subitem_date_issued_type":"Created"}]},"item_20002_description_14":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Epub 2016 Nov 5","subitem_description_type":"Other"},{"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'-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's 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' 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' 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'-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma'-chain production (hypofibrinogenemia) and augmented aberrant.'-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. All rights reserved.","subitem_description_type":"Other"}]},"item_20002_description_20":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"Article","subitem_description_type":"Other"}]},"item_20002_description_22":{"attribute_name":"その他の資源識別子","attribute_value_mlt":[{"subitem_description":"THROMBOSIS RESEARCH. 148:111-117 (2016)","subitem_description_type":"Other"}]},"item_20002_full_name_16":{"attribute_name":"公開者(その他言語)","attribute_value_mlt":[{"nameIdentifiers":[{}],"names":[{"name":"PERGAMON-ELSEVIER, SCIENCE LTD"}]}]},"item_20002_identifier_23":{"attribute_name":"資源識別子URI","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/10091/00019777"}]},"item_20002_relation_31":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=27837696","subitem_relation_type_select":"PMID"}}]},"item_20002_relation_32":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"http://dx.doi.org/10.1016/j.thromres.2016.11.002","subitem_relation_type_select":"DOI"}}]},"item_20002_rights_50":{"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/"},{"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_20002_source_id_25":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0049-3848","subitem_source_identifier_type":"ISSN"}]},"item_20002_version_type_51":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"url":{"url":"https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=19015&item_no=1&attribute_id=65&file_no=1"}}]},"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 '-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"}]},"item_type_id":"20002","owner":"25","path":["2668"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-09-04"},"publish_date":"2020-09-04","publish_status":"0","recid":"42068","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_creator_id":"25","weko_shared_id":-1},"updated":"2023-05-15T18:38:28.070651+00:00"}