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著作: Kanagawa Yasuhiko/Shigekiyo Toshio/[粟飯原 賢一]/[赤池 雅史]/[東 博之]/[松本 俊夫]/Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima/[Thrombosis and Haemostasis]

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EID
130623
EOID
894310
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0
LastModified
2018年3月20日(火) 16:09:00
Operator
三木 ちひろ
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粟飯原 賢一
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種別 必須 学術論文(審査論文)
言語 必須 英語
招待 推奨
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著者 必須
  1. (英) Kanagawa Yasuhiko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. (英) Shigekiyo Toshio
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    学籍番号 推奨
  3. 粟飯原 賢一([徳島大学.大学院医歯薬学研究部.医学域.連携研究部門(医学域).寄附講座系(医学域).実践地域診療・医科学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. 赤池 雅史([徳島大学.大学院医歯薬学研究部.医学域.医科学部門.社会医学系.医療教育学])
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. 東 博之
    役割 任意
    貢献度 任意
    学籍番号 推奨
  6. 松本 俊夫
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima

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(英) We found a 66-year-old Japanese patient with type I congenital heparin cofactor (HC) II deficiency manifesting multiple atherosclerotic lesions. To investigate the molecular pathogenesis of our patient, we performed sequencing analysis and expressed recombinant human wild-type and mutant HC II molecules in COS-1 and CHO-K1 cells. Sequencing analysis following amplification of each of all 5 exons and its flanking region showed a single C to T transition at nucleotide position 12,854 in exon 5, which changed a Pro443 codon (CCG) to Leu codon (CTG). Because this mutation generates a new Bhv I site, the Bbv I digestion pattern of the PCR-amplified exon 5 fragments from each family member was analyzed. In all cases, the patterns were consistent with the activities and antigen levels of plasma HC I1 in those members. Transient transfection, metabolic labeling and pulse-chase experiments followed by immunoprecipitation analysis showed that the recombinant mutant HC II molecules were secreted from COS-1 cells in reduced amounts compared with the wild-type, and that an enhanced intracellular association of the mutant molecules with a chaperone, GRP78/BiP, was observed in CHO-K1 cells. Northern blot analysis indicated that the mutant HC I1 mRNA was transcribed at a similar level as that of wild-type. Immunohistochemical staining of the transfected cells revealed that COS-1 cells expressing the mutant HC II molecules were stained mainly in the perinuclear area. We conclude that the impaired secretion of the mutant HC II molecules, due to intracellular degradation, is the molecular pathogenesis of type I congenital HC II deficiency caused by a Pro443 to Leu mutation at reactive P2 site.

キーワード 推奨
  1. (英) heparin cofactor II
  2. (英) thrombosis
  3. (英) thrombin
  4. (英) transfection
  5. (英) chaperone
発行所 推奨 (英) Schattaucr Vcrlag
誌名 必須 Thrombosis and Haemostasis(International Society on Thrombosis and Haemostasis)
(pISSN: 0340-6245, eISSN: 2567-689X)
ISSN 任意 0340-6245
ISSN: 0340-6245 (pISSN: 0340-6245, eISSN: 2567-689X)
Title: Thrombosis and haemostasis
Title(ISO): Thromb Haemost
Publisher: Georg Thieme Verlag
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 85
必須 1
必須 101 107
都市 任意
年月日 必須 2001年 1月 初日
URL 任意
DOI 任意
PMID 任意 11204559    (→Scopusで検索)
NAID 任意
WOS 任意 000166544100019
Scopus 任意 2-s2.0-0035171975
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被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.PublicationTypeList.PublicationType: Case Reports

  2. (英) Article.PublicationTypeList.PublicationType: Journal Article

  3. (英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't