{"created":"2023-05-15T15:57:57.525379+00:00","id":27265,"links":{},"metadata":{"_buckets":{"deposit":"544153ed-4f66-4b4e-b245-62830bf49837"},"_deposit":{"created_by":3,"id":"27265","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"27265"},"status":"published"},"_oai":{"id":"oai:shinshu.repo.nii.ac.jp:00027265","sets":["2668"]},"author_link":["106750","106751","106752","106749","106746","106747","106748","106753"],"item_20002_biblio_info_27":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2010-06","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"223","bibliographicPageStart":"213","bibliographicVolumeNumber":"104","bibliographic_titles":[{"bibliographic_title":"Thrombosis and Haemostasis"}]}]},"item_20002_creator_3":{"attribute_name":"作成者(その他言語)","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_20002_date_19":{"attribute_name":"日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2015-09-24","subitem_date_issued_type":"Created"}]},"item_20002_description_14":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"This article is not an exact copy of the original published article in THROMBOSIS AND HAEMOSTASIS. The definitive publisher-authenticated version of THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) is available online at: http://dx.doi.org/10.1160/TH09-08-0540 .","subitem_description_type":"Other"},{"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 visualized 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 orγ’-chain were transfected into CHO cells. In vitro expression of transfectants containingγΔ7651A 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 8 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":"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_21":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","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 AND HAEMOSTASIS. 104(2):213-223 (2010)","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":"Schattauer"}]}]},"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/10091/10294"}]},"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=20589319","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/10.1160/TH09-08-0540","subitem_relation_type_select":"DOI"}}]},"item_20002_rights_50":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright (c) 2010 Schattauer Publishers"}]},"item_20002_source_id_25":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0340-6245","subitem_source_identifier_type":"ISSN"}]},"item_20002_source_id_26":{"attribute_name":"処理レコードID(総合目録DB)","attribute_value_mlt":[{"subitem_source_identifier":"AA00863137","subitem_source_identifier_type":"NCID"}]},"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=3919&item_no=1&attribute_id=65&file_no=1"}}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"hypofibrinogenemia","subitem_subject_scheme":"Other"},{"subitem_subject":"nucleotide deletion","subitem_subject_scheme":"Other"},{"subitem_subject":"frameshift mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"assembly","subitem_subject_scheme":"Other"},{"subitem_subject":"secretion","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":"A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia"}]},"item_type_id":"20002","owner":"3","path":["2668"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-09-01"},"publish_date":"2020-09-01","publish_status":"0","recid":"27265","relation_version_is_last":true,"title":["A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-05-15T22:08:14.022492+00:00"}