Thrombosis Research
Volume 125, Issue 3 , Pages 262-266 , March 2010

Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency

  • Ryoko Tanaka

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Daisuke Nakashima

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Atsuo Suzuki

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Yuhri Miyawaki

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Yuta Fujimori

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Takayuki Yamada

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Akira Takagi

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • Department of Medical Technology, Nagoya University School of Health Sciences, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Takashi Murate

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • Department of Medical Technology, Nagoya University School of Health Sciences, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • ,
  • Koji Yamamoto

      Affiliations

    • Division of Transfusion Medicine, Nagoya University Hospital, 65 Tsurumai-Cho, Showa-Ku, Nagoya 466-8550, Japan
    • ,
  • Akira Katsumi

      Affiliations

    • Department of Hematology-Oncology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya 466-8550, Japan
    • ,
  • Tadashi Matsushita

      Affiliations

    • Department of Hematology-Oncology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya 466-8550, Japan
    • ,
  • Tomoki Naoe

      Affiliations

    • Department of Hematology-Oncology, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Showa-Ku, Nagoya 466-8550, Japan
    • ,
  • Tetsuhito Kojima

      Affiliations

    • Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan
    • Division of Transfusion Medicine, Nagoya University Hospital, 65 Tsurumai-Cho, Showa-Ku, Nagoya 466-8550, Japan
    • Corresponding Author InformationCorresponding author. Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, 1-1-20 Daiko-Minami, Higashi-Ku, Nagoya 461-8673, Japan Tel./fax: +81 52 719 3153.

Received 24 June 2009 ,Revised 7 September 2009 ,Accepted 18 September 2009.

References 

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  17. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-Pdb Viewer: An environment for comparative protein modeling. Electrophoresis. 1997;18(15):2714–2723
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  20. Chen H, Chan W, Chen C, Mansfield B, Chou J. The carboxyl-terminal domain of the human pregnancy-specific glycoprotein specifies intracellular retention and stability. J Biol Chem. 1993;268(29):22066–22075
  21. Katsumi A, Kojima T, Senda T, et al. The carboxyl-terminal region of protein C is essential for its secretion. Blood. 1998;91(10):3784–3791
  22. Kurachi S, Pantazatos DP, Kurachi K. The carboxyl-terminal region of factor IX is essential for its secretion. Biochemistry. 1997;36(14):4337–4344
  23. Yamamoto K, Tanimoto M, Emi N, Matsushita T, Takamatsu J, Saito H. Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency. J Clin Invest. 1992;90(6):2439–2446
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PII: S0049-3848(09)00407-1

doi: 10.1016/j.thromres.2009.09.014

Thrombosis Research
Volume 125, Issue 3 , Pages 262-266 , March 2010

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