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In vitro characterization of missense mutations associated with quantitative protein Sdeficiency
http://hdl.handle.net/2237/11695
http://hdl.handle.net/2237/11695323c99ba-d82b-4ebd-baf6-5e5cea230a1c
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okda_hiromi_text.pdf (324.3 kB)
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okada_hiromi_TableFig.pdf (164.0 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2009-05-07 | |||||
タイトル | ||||||
タイトル | In vitro characterization of missense mutations associated with quantitative protein Sdeficiency | |||||
言語 | en | |||||
著者 |
Okada, H
× Okada, H× 岡田, 浩美× Yamazaki, T× Takagi, A× Murate, T× Yamamoto, K× Takamatsu, J× Matsushita, T× Naoe, T× Kunishima, S× Hamaguchi, M× Saito, H× Kojima, T |
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アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Objective: To elucidate the molecular consequences of hereditary protein S (PS) deficiency, we investigated the in vitro synthesis of the PS missense mutants in COS-1 cells and their activated protein C (APC) cofactor activities. Patients: Four patients with quantitative PS deficiency suffering from venous thrombosis were examined. Results: We identified three distinct novel missense mutations, R275C, P375Q and D455Y, and two previously reported missense mutations, C80Y and R314H. The P375Q and D455Y mutations were found in one patient and observed to be in linkage on the same allele. The R314H mutant showed the lowest level of expression (32.7%), and the C80Y, P375Q + D455Y, and R275C mutants exhibited a moderate impairment of expression, that is, 43.8%, 49.5%, and 72.3% of the wild type, respectively. Furthermore, pulse-chase experiments demonstrated that all mutants showed impaired secretion and longer half-lives in the cells than the wild type PS. In the APC cofactor assays, the C80Y mutant showed no cofactor activity, and the R275C mutant showed reduced activity, 62.3% of the wild type PS, whereas the R314H and P375Q + D455Y mutants exhibited normal cofactor activity. Conclusion: These data indicate that the C80Y and R275C mutations affect the secretion and function of the PS molecule, and that the R314H and P375Q + D455Y mutations are responsible for only secretion defects, causing the phenotype of quantitative PS deficiency observed in the patients. | |||||
言語 | en | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 名古屋大学博士学位論文 学位の種類:博士(医療技術学)(課程)学位授与年月日:平成19年3月23日 | |||||
言語 | ja | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | In vitro characterization of missense mutations associated with quantitative protein Sdeficiency Schattauer, v.4, iss.9, pp.2003-2009を、博士論文として提出したもの。 | |||||
言語 | ja | |||||
出版者 | ||||||
出版者 | Schattauer | |||||
言語 | en | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
資源タイプ | doctoral thesis | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0340-6245 | |||||
書誌情報 |
en : Journal of Thrombosis and Haemostasis 巻 4, p. 2003-2009, 発行日 2006-09-04 |
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学位名 | ||||||
言語 | ja | |||||
学位名 | 博士(医療技術学) | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 13901 | |||||
言語 | ja | |||||
学位授与機関名 | 名古屋大学 | |||||
言語 | en | |||||
学位授与機関名 | NAGOYA University | |||||
学位授与年度 | ||||||
値 | 2006 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2006-09-04 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲第7291号 | |||||
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値 | application/pdf | |||||
フォーマット | ||||||
値 | application/pdf | |||||
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値 | publisher | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2237/11695 | |||||
識別子タイプ | HDL |