{"created":"2021-03-01T06:58:02.201136+00:00","id":20330,"links":{},"metadata":{"_buckets":{"deposit":"2df545d5-284c-42d1-a1d7-ff501edad503"},"_deposit":{"id":"20330","owners":[],"pid":{"revision_id":0,"type":"depid","value":"20330"},"status":"published"},"_oai":{"id":"oai:tsukuba.repo.nii.ac.jp:00020330","sets":["2780:1494","3:62:5602:1380"]},"item_5_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2010-08","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"223","bibliographicPageStart":"213","bibliographicVolumeNumber":"104","bibliographic_titles":[{"bibliographic_title":"Thrombosis and haemostasis"}]}]},"item_5_creator_3":{"attribute_name":"著者別名","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"山内, 一由"}],"nameIdentifiers":[{},{},{}]}]},"item_5_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the γ-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot analysis of the patient’s plasma fibrinogen visualised with anti-γ-chain antibody revealed the presence of two extra bands. To identify the extra bands and determine which of the above-mentioned alterations caused the assembly and/or secretion defects in the patient, 11 variant vectors that introduced mutations into the cDNA of the γ-chain or γ’-chain were transfected into Chinese hamster ovary cells. In vitro expression of transfectants containing γΔ7651A and γΔ7651A/399T (γΔ7651A with an amino acid substitution of 399Asn by Thr and a variant lacking the canonical glycosylation site) demonstrated a reduction in secretion to approximately 20% of the level seen in the transfectants carrying the normal γ-chain. Furthermore, results from other transfectants demonstrated that eight aberrant residues between 391 and 398 of the M-VII variant, rather than the 15 amino acid extension or the additional glycosylation, are responsible for the reduced levels of assembly and secretion of M-VII variant fibrinogen. Finally, the results of this study and our previous reports demonstrate that the fibrinogen γ-chain C-terminal tail (388–411) is not necessary for protein assembly or secretion, but the aberrant amino acid sequence observed in the M-VII variant (especially 391–398) disturbs these functions.","subitem_description_type":"Abstract"}]},"item_5_identifier_34":{"attribute_name":"URI","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2241/106403"}]},"item_5_publisher_27":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Schattauer"}]},"item_5_relation_10":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"20589319","subitem_relation_type_select":"PMID"}}]},"item_5_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1160/TH09-08-0540","subitem_relation_type_select":"DOI"}}]},"item_5_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© Schattauer 2010"}]},"item_5_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"author"}]},"item_5_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0340-6245","subitem_source_identifier_type":"ISSN"}]},"item_5_source_id_9":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00863137","subitem_source_identifier_type":"NCID"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Fujihara, Noriko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Haneishi, Ayumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamauchi, Kazuyoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Terasawa, Fumiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ito, Toshiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ishida, Fumihiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Okumura, Nobuo"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2013-12-24"}],"displaytype":"detail","filename":"TAH_104-2.pdf","filesize":[{"value":"1.6 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"TAH_104-2.pdf","url":"https://tsukuba.repo.nii.ac.jp/record/20330/files/TAH_104-2.pdf"},"version_id":"8d0981e4-2c57-4db1-bf0e-899660e85d6d"}]},"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":"A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia"}]},"item_type_id":"5","owner":"1","path":["1494","1380"],"pubdate":{"attribute_name":"公開日","attribute_value":"2010-09-14"},"publish_date":"2010-09-14","publish_status":"0","recid":"20330","relation_version_is_last":true,"title":["A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia"],"weko_creator_id":"1","weko_shared_id":5},"updated":"2022-04-27T09:47:23.543223+00:00"}