Research Article

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation†

  1. Tomoko Kobayashi1,
  2. Yoko Aoki1,*,
  3. Tetsuya Niihori1,
  4. Hélène Cavé2,
  5. Alain Verloes2,
  6. Nobuhiko Okamoto3,
  7. Hiroshi Kawame4,5,
  8. Ikuma Fujiwara6,
  9. Fumio Takada7,
  10. Takako Ohata7,
  11. Satoru Sakazume8,
  12. Tatsuya Ando9,
  13. Noriko Nakagawa10,
  14. Pablo Lapunzina11,
  15. Antonio G. Meneses11,
  16. Gabriele Gillessen-Kaesbach12,
  17. Dagmar Wieczorek13,
  18. Kenji Kurosawa14,
  19. Seiji Mizuno15,
  20. Hirofumi Ohashi16,
  21. Albert David17,
  22. Nicole Philip18,
  23. Afag Guliyeva1,
  24. Yoko Narumi1,‡,
  25. Shigeo Kure1,6,
  26. Shigeru Tsuchiya6,
  27. Yoichi Matsubara1

Article first published online: 5 JAN 2010

DOI: 10.1002/humu.21187

Issue

Human Mutation

Human Mutation

Volume 31, Issue 3, pages 284–294, March 2010

Additional Information

How to Cite

Kobayashi, T., Aoki, Y., Niihori, T., Cavé, H., Verloes, A., Okamoto, N., Kawame, H., Fujiwara, I., Takada, F., Ohata, T., Sakazume, S., Ando, T., Nakagawa, N., Lapunzina, P., Meneses, A. G., Gillessen-Kaesbach, G., Wieczorek, D., Kurosawa, K., Mizuno, S., Ohashi, H., David, A., Philip, N., Guliyeva, A., Narumi, Y., Kure, S., Tsuchiya, S. and Matsubara, Y. (2010), Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum. Mutat., 31: 284–294. doi: 10.1002/humu.21187

Author Information

  1. 1

    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan

  2. 2

    APHP, Hôpital Robert Debré, Département de Génétique; Université Paris 7-Denis Diderot, Paris, France

  3. 3

    Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan

  4. 4

    Division of Medical Genetics, Nagano Children's Hospital, Nagano, Japan

  5. 5

    Department of Genetic Counseling, Ochanomizu University, Tokyo, Japan

  6. 6

    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

  7. 7

    Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan

  8. 8

    Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan

  9. 9

    Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan

  10. 10

    Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan

  11. 11

    Servicio de Genetica Medica, Hospital Universitario La Paz, Madrid, Spain

  12. 12

    Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany

  13. 13

    Institut für Humangenetik, Universitaetsklinikum Essen Universitaet Duisburg-Essen, Essen, Germany

  14. 14

    Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

  15. 15

    Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan

  16. 16

    Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan

  17. 17

    CHU Nantes, Nantes, France

  18. 18

    Hôpital de la Timone, Marseille, France

  1. ‡

    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

*Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan

  1. †

    Communicated by Nancy B. Spinner

Publication History

  1. Issue published online: 16 FEB 2010
  2. Article first published online: 5 JAN 2010
  3. Accepted manuscript online: 5 JAN 2010 12:00AM EST
  4. Manuscript Accepted: 2 DEC 2009
  5. Manuscript Received: 20 JUL 2009

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (414K)

Options for accessing this content:

  • If you have access to this content through a society membership, please first log in to your society website.
  • If you would like institutional access to this content, please recommend the title to your librarian.
  • Login via other institutional login options http://onlinelibrary.wiley.com/login-options.
  • You can purchase online access to this Article for a 24-hour period (price varies by title)
    • If you already have a Wiley Online Library or Wiley InterScience user account: login above and proceed to purchase the article.
    • New Users: Please register, then proceed to purchase the article.

If your institution is a registered Wiley Online Library customer, you can log in under your institution's name to see our content. This access is provided by Shibboleth or Athens.

Type your institution's name in the box below. If your institution is a Wiley customer, it will appear in the list of suggested institutions.

Please register to:

  • Save publications, articles and searches
  • Get email alerts
  • Get all the benefits mentioned below!

Register now >

Get PDF (414K)