| Item type |
Journal Article(1) |
| 公開日 |
2020-09-04 |
| タイトル |
|
|
タイトル |
Heterozygous Variant Fibrinogen γA289V (Kanazawa III) Was Confirmed as Hypodysfibrinogenemia by Plasma and Recombinant Fibrinogens |
| 作成者(その他言語) |
Kaido, Takahiro
Yoda, Masahiro
Kamijo, Tomu
Taira, Chiaki
Higuchi, Yumiko
Okumura, Nobuo
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| 公開者(その他言語) |
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|
姓名 |
WILEY |
| 書誌情報 |
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
巻 42,
号 2,
p. 190-197,
発行日 2020-01-20
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| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
“D:D” interaction |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
dysfibrinogenemia |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
fibrinogen |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
hypodysfibrinogenemia |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
γ‐module |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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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 |
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内容記述タイプ |
Other |
|
内容記述 |
Introduction: Congenital fibrinogen disorders are classified as afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. However, difficulties are associated with discriminating between dysfibrinogenemia, hypofibrinogenemia, and hypodysfibrinogenemia using routine analyses. We previously reported a heterozygous variant fibrinogen (γA289V; Kanazawa III) as hypodysfibrinogenemia; however, the same variant had previously been described as hypofibrinogenemia. To clarify the production of γA289V fibrinogen, we expressed recombinant γA289V (r-γA289V) fibrinogen and compared it with wild-type (WT) and adjacent recombinant variant fibrinogens.Methods: Target mutations were introduced into a fibrinogen γ-chain expression vector by site-directed mutagenesis, and the vector was then transfected into Chinese hamster ovary cells to produce recombinant fibrinogen. Fibrinogen was purified from the plasma of the proposita, and culture media and fibrinogen functions were analyzed using fibrin polymerization, plasmin protection, and FXIIIa-catalyzed fibrinogen cross-linking.Results: The fibrinogen concentration ratio of the culture media to cell lysates was markedly lower for r-γA289V fibrinogen than for WT. Because the secretion of recombinant γF290L (r-γF290L) fibrinogen was similar to WT, we compared r-γF290L fibrinogen functions with WT. The fibrin polymerization of Kanazawa III plasma (K-III) fibrinogen was significantly weaker than normal plasma fibrinogen. Moreover, K-III fibrinogen showed a markedly reduced “D:D” interaction. However, all functions of r-γF290L fibrinogen were similar to WT. An in silico analysis confirmed the above results.Conclusion: The present results demonstrated that γA289 is crucial for the γ-module structure, and the γA289V substitution markedly reduced fibrinogen secretion. Moreover, K-III fibrinogen showed markedly reduced fibrin polymerization and “D:D” interactions. γA289V fibrinogen was confirmed as hypodysfibrinogenemia. |
| 日付 |
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|
日付 |
2020-05-15 |
|
日付タイプ |
Created |
| 資源タイプ |
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内容記述タイプ |
Other |
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内容記述 |
Article |
| その他の資源識別子 |
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|
内容記述タイプ |
Other |
|
内容記述 |
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY.42(2):190-197(2020) |
| 資源識別子URI |
|
|
識別子 |
http://hdl.handle.net/10091/00022108 |
|
識別子タイプ |
HDL |
| ISSN |
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1751-5521 |
| 処理レコードID(総合目録DB) |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA12801851 |
| PubMed番号 |
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|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
PMID |
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|
関連識別子 |
https://www.ncbi.nlm.nih.gov/pubmed/31957968 |
| DOI |
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|
関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1111/ijlh.13152 |
| 権利 |
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|
権利情報 |
This is the peer reviewed version of the following article: [Kaido, T, Yoda, M, Kamijo, T, Taira, C, Higuchi, Y, Okumura, N. Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens. Int J Lab Hematol. 2020; 42: 190– 197.], which has been published in final form at https://doi.org/10.1111/ijlh.13152. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. |
| 権利 |
|
|
権利情報 |
This is the peer reviewed version of the following article: [Kaido, T, Yoda, M, Kamijo, T, Taira, C, Higuchi, Y, Okumura, N. Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens. Int J Lab Hematol. 2020; 42: 190– 197.], which has been published in final form at https://doi.org/10.1111/ijlh.13152. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. |
| 著者版フラグ |
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|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=21351&item_no=1&attribute_id=65&file_no=2
