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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
http://hdl.handle.net/10091/10294
http://hdl.handle.net/10091/102945cc611f4-6585-467b-9480-def7efaa22c4
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
C-terminal_amino_acid_substitution.pdf (838.3 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2010-08-19 | |||||
| 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 | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1160/TH09-08-0540 | |||||
| 関連名称 | 10.1160/TH09-08-0540 | |||||
| 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 | |||||
| 著者 |
Fujihara, Noriko
× Fujihara, Noriko× Haneishi, Ayumi× Yamauchi, Kazuyoshi× Terasawa, Fumiko× Ito, Toshiro× Ishida, Fumihiro× Okumura, Nobuo |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Ishida, Fumihiro | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.ueTCHhkh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Okumura, Nobuo | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html | |||||
| 出版者 | ||||||
| 出版者 | Schattauer | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | THROMBOSIS AND HAEMOSTASIS. 104(2):213-223 (2010) | |||||
| 書誌情報 |
Thrombosis and Haemostasis 巻 104, p. 213-223, 発行日 2010-07 |
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| 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: https://doi.org/10.1160/TH09-08-0540 . | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 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. | |||||
| 資源タイプ（コンテンツの種類） | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0340-6245 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00863137 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/20589319 | |||||
| 関連名称 | 20589319 | |||||
| 権利 | ||||||
| 権利情報 | Copyright (c) 2010 Schattauer Publishers | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| WoS | ||||||
| 表示名 | Web of Science | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000281067800006 | |||||
