『徳島大学 教育・研究者情報データベース (EDB)』---[学外] /
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種別 (必須): 学術論文 (審査論文) [継承]
言語 (必須): 英語 [継承]
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著者 (必須): 1. (英) Kanagawa Yasuhiko (日) (読)
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2. (英) Shigekiyo Toshio (日) (読)
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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])
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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])
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5.東 博之
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6.松本 俊夫
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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  (日)    [継承]
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要約 (任意): (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.  (日)    [継承]
キーワード (推奨): 1. (英) heparin cofactor II (日) (読) [継承]
2. (英) thrombosis (日) (読) [継承]
3. (英) thrombin (日) (読) [継承]
4. (英) transfection (日) (読) [継承]
5. (英) chaperone (日) (読) [継承]
発行所 (推奨): (英) Schattaucr Vcrlag (日) (読) [継承]
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])
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年月日 (必須): 西暦 2001年 1月 初日 (平成 13年 1月 初日) [継承]
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PMID (任意): 11204559    (→Scopusで検索) [継承]
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WOS (任意): 000166544100019 [継承]
Scopus (任意): 2-s2.0-0035171975 [継承]
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備考 (任意): 1.(英) Article.PublicationTypeList.PublicationType: Case Reports  (日)    [継承]
2.(英) Article.PublicationTypeList.PublicationType: Journal Article  (日)    [継承]
3.(英) Article.PublicationTypeList.PublicationType: Research Support, Non-U.S. Gov't  (日)    [継承]

標準的な表示

和文冊子 ● Yasuhiko Kanagawa, Toshio Shigekiyo, Ken-ichi Aihara, Masashi Akaike, Hiroyuki Azuma and Toshio Matsumoto : 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, Vol.85, No.1, 101-107, 2001.
欧文冊子 ● Yasuhiko Kanagawa, Toshio Shigekiyo, Ken-ichi Aihara, Masashi Akaike, Hiroyuki Azuma and Toshio Matsumoto : 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, Vol.85, No.1, 101-107, 2001.

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