{"created":"2023-06-20T13:10:09.175941+00:00","id":978,"links":{},"metadata":{"_buckets":{"deposit":"ef883594-4c9d-4fb6-bf21-ad1cfa84fe34"},"_deposit":{"created_by":3,"id":"978","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"978"},"status":"published"},"_oai":{"id":"oai:kobe-tokiwa.repo.nii.ac.jp:00000978","sets":["6:71"]},"author_link":["6105","7760","7756","7757","7759","6107","6106","6083","6108","7758","7755","6049"],"item_10002_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-03-31","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"11","bibliographicPageEnd":"156","bibliographicPageStart":"147","bibliographic_titles":[{"bibliographic_title":"神戸常盤大学紀要"},{"bibliographic_title":"Bulletin of Kobe Tokiwa University","bibliographic_titleLang":"en"}]}]},"item_10002_description_25":{"attribute_name":"抄録（英）","attribute_value_mlt":[{"subitem_description":"At the Hamamatsu University School of Medicine, we encountered a patient with congenital afibrinogenemia for whom genetic analysis revealed the presence of a 1238 bp deletion in the fibrinogen alpha chain (FGA) gene, which codes for fibrinogen. Western blotting confirmed that there was no fibrinogen present in the patient’s plasma. We reproduced the same FGA deletion as that seen in our patient, using fibrinogen nonproducer cultured COS1 cells, to investigate its dynamics. The three expression vectors of fibrinogen beta chain, fibrinogen gamma chain, and either wild type FGA or variant FGA, possessing the mutation, were co-transfected into COS1 cells and fibrinogen biosynthesis and secretion were analyzed. Our results indicated that in cells transfected with wild type FGA, fibrinogen secretion was detected in the culture medium, demonstrating normal fibrinogen dynamics. However, although cells expressing the variant FGA exhibited intracellular expression, we detected no secretion into the culture medium. Thus, it appears that fibrinogen cannot be secreted outside of cells possessing the incomplete fibrinogen A α chain in our patient with congenital afibrinogenemia , resulting in the onset of the disease."}]},"item_10002_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"浜松医科大学にて先天性無フィブリノゲン血症の患者を経験し、その遺伝子解析からフィブリノゲン(Fbg)を構成する遺伝子FGAに1238 bpの欠失を見出した。同時にウエスタンブロットによりFbgが血漿中には存在しないことを確認した。この患者の変異と同じFGAの欠失をFbg非産生の培養細胞株COS1を用い再現し、その動態について研究を行った。FGB、FGGと野生型FGAまたは、患者と同じ変異を加えた変異型FGAの3つの発現ベクターをCOS1細胞に共遺伝子導入し、Fbgの生合成・分泌に関して解析を行った。その結果、野生型を導入した細胞では培養液中にも分泌され本来のFbgと同様の動態を示したが、変異型FGAを発現させた細胞では細胞内に発現しているものの、培養液中には分泌されてなかった。これらのことから患者の不完全なA α鎖ではFbg全体が細胞外に分泌できず発症すると考えられる。"}]},"item_10002_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.20608/00000968","subitem_identifier_reg_type":"JaLC"}]},"item_10002_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"神戸常盤大学・神戸常盤大学短期大学部"}]},"item_10002_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"18845487","subitem_source_identifier_type":"ISSN"}]},"item_10002_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"澤村, 暢"},{"creatorName":"サワムラ, トオル","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"谷口, 照美"},{"creatorName":"タニグチ, テルミ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"濱田, 悦子"},{"creatorName":"ハマダ, エツコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"三浦, 真希子"},{"creatorName":"ミウラ, マキコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"坂本, 秀生"},{"creatorName":"サカモト, ヒデオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"前川, 真人"},{"creatorName":"マエカワ, マサト","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"SAWAMURA, Toru","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"TANIGUCHI, Terumi","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"HAMADA, Etsuko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"MIURA, Makiko","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"SAKAMOTO, Hideo","creatorNameLang":"en"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"MAEKAWA, Masato","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2023-04-21"}],"displaytype":"detail","filename":"Bulletin11_17.pdf","filesize":[{"value":"2.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"Bulletin11_17.pdf","url":"https://kobe-tokiwa.repo.nii.ac.jp/record/978/files/Bulletin11_17.pdf"},"version_id":"3c6c299c-88de-4bbb-8375-3fb467e1fb15"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"無フィブリノゲン血症"},{"subitem_subject":"FGA"},{"subitem_subject":"フィブリノゲン"},{"subitem_subject":"afibrinogenemia"},{"subitem_subject":"FGA"},{"subitem_subject":"Fibrinogen"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper"}]},"item_title":"先天性無フィブリノゲン血症患者の分子遺伝学的解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"先天性無フィブリノゲン血症患者の分子遺伝学的解析"},{"subitem_title":"Molecular genetic analysis of congenital afibrinogenemia","subitem_title_language":"en"}]},"item_type_id":"10002","owner":"3","path":["71"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-03-31"},"publish_date":"2018-03-31","publish_status":"0","recid":"978","relation_version_is_last":true,"title":["先天性無フィブリノゲン血症患者の分子遺伝学的解析"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-06-20T13:16:35.684333+00:00"}