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A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia
https://shinshu.repo.nii.ac.jp/records/27265
https://shinshu.repo.nii.ac.jp/records/272657f108614-27b5-4e9f-b989-4905b73dc7bc
名前 / ファイル | ライセンス | アクション |
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https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3919&item_no=1&attribute_id=65&file_no=1
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Item type | Journal Article(1) | |||||
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公開日 | 2020-09-01 | |||||
タイトル | ||||||
タイトル | A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenemia | |||||
作成者(その他言語) |
Fujihara, Noriko
× Fujihara, Noriko× Haneishi, Ayumi× Yamauchi, Kazuyoshi× Terasawa, Fumiko× Ito, Toshiro× Ishida, Fumihiro× Okumura, Nobuo |
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公開者(その他言語) | ||||||
姓名 | Schattauer | |||||
書誌情報 |
Thrombosis and Haemostasis 巻 104, p. 213-223, 発行日 2010-06 |
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言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | hypofibrinogenemia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | nucleotide deletion | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | frameshift mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | assembly | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | secretion | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 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 . | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 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. | |||||
日付 | ||||||
日付 | 2015-09-24 | |||||
日付タイプ | Created | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
その他の資源識別子 | ||||||
内容記述タイプ | Other | |||||
内容記述 | THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) | |||||
資源識別子URI | ||||||
識別子 | http://hdl.handle.net/10091/10294 | |||||
識別子タイプ | HDL | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0340-6245 | |||||
処理レコードID(総合目録DB) | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00863137 | |||||
PubMed番号 | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | PMID | |||||
関連識別子 | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=pubmed&term=20589319 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | http://dx.doi.org/10.1160/TH09-08-0540 | |||||
権利 | ||||||
権利情報 | Copyright (c) 2010 Schattauer Publishers | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa |