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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

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/10091/10294
5cc611f4-6585-467b-9480-def7efaa22c4
名前 / ファイル ライセンス アクション
C-terminal_amino_acid_substitution.pdf C-terminal_amino_acid_substitution.pdf (838.3 kB)
Item type 学術雑誌論文 / Journal Article(1)
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
言語 eng
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 hypofibrinogenemia, nucleotide deletion, frameshift mutation, assembly, secretion
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Fujihara, Noriko

× Fujihara, Noriko

en Fujihara, Noriko

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Haneishi, Ayumi

× Haneishi, Ayumi

en Haneishi, Ayumi

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Yamauchi, Kazuyoshi

× Yamauchi, Kazuyoshi

en Yamauchi, Kazuyoshi

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Terasawa, Fumiko

× Terasawa, Fumiko

en Terasawa, Fumiko

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Ito, Toshiro

× Ito, Toshiro

en Ito, Toshiro

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Ishida, Fumihiro

× Ishida, Fumihiro

en Ishida, Fumihiro

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Okumura, Nobuo

× Okumura, Nobuo

en Okumura, Nobuo

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信州大学研究者総覧へのリンク
氏名 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
氏名 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 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
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 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)
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
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000281067800006
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