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  1. C100 医学部/医学系研究科
  2. C100d 学位論文
  3. 博士論文(医保博・論医保博)

In vitro characterization of missense mutations associated with quantitative protein Sdeficiency

http://hdl.handle.net/2237/11695
323c99ba-d82b-4ebd-baf6-5e5cea230a1c
名前 / ファイル ライセンス アクション
okda_hiromi_text.pdf okda_hiromi_text.pdf (324.3 kB)
okada_hiromi_TableFig.pdf okada_hiromi_TableFig.pdf (164.0 kB)
Item type 学位論文 / Thesis or Dissertation(1)
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
著者 Okada, H

× Okada, H

WEKO 29796

Okada, H

Search repository
岡田, 浩美

× 岡田, 浩美

WEKO 29797

岡田, 浩美

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Yamazaki, T

× Yamazaki, T

WEKO 29798

Yamazaki, T

Search repository
Takagi, A

× Takagi, A

WEKO 29799

Takagi, A

Search repository
Murate, T

× Murate, T

WEKO 29800

Murate, T

Search repository
Yamamoto, K

× Yamamoto, K

WEKO 29801

Yamamoto, K

Search repository
Takamatsu, J

× Takamatsu, J

WEKO 29802

Takamatsu, J

Search repository
Matsushita, T

× Matsushita, T

WEKO 29803

Matsushita, T

Search repository
Naoe, T

× Naoe, T

WEKO 29804

Naoe, T

Search repository
Kunishima, S

× Kunishima, S

WEKO 29805

Kunishima, S

Search repository
Hamaguchi, M

× Hamaguchi, M

WEKO 29806

Hamaguchi, M

Search repository
Saito, H

× Saito, H

WEKO 29807

Saito, H

Search repository
Kojima, T

× Kojima, T

WEKO 29808

Kojima, T

Search repository
抄録
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.
内容記述タイプ Abstract
内容記述
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
内容記述タイプ Other
内容記述
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。
内容記述タイプ Other
出版者
出版者 Schattauer
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_46ec
タイプ thesis
ISSN
収録物識別子タイプ ISSN
収録物識別子 0340-6245
書誌情報 Journal of Thrombosis and Haemostasis

巻 4, p. 2003-2009, 発行日 2006-09-04
学位授与年度
学位授与年度 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 13901甲第7291号
フォーマット
application/pdf
フォーマット
application/pdf
著者版フラグ
値 publisher
URI
識別子 http://hdl.handle.net/2237/11695
識別子タイプ HDL
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