Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

著录项

• 来源
  《Proceedings of the National Academy of Sciences of the United States of America》 |2009年第33期|13921-13926|共6页
• 作者

  Loiec de Pontual; Norann A. Zaghloul; Sophie Thomas; Erica E. Davis; David M. Mcgaughey; Helene Dollfus; Clarisse Baumann; Seneca L. Bessling; Candice Babarit; Anna Pelet; Cecilia Gascue; Philip Beales; Arnold Munnich; Stanislas Lyonnet; Heather Etchevers; Tania Attie-Bitach; Jose L. Badano; Andrew S. McCallion; Nicholas Katsanis; Jeanne Amiel;

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• 作者单位

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

  Service de Genetique Medicale, Hopital de Haute-Pierre, F-67098 Strasbourg, France;

  Service de Genetique Medicale, Hopital Robert Debre, 75935 Paris, France;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France;

  Institut Pasteur de Montevideo, CP11400 Montevideo, Uruguay;

  Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom Faculte de Medecine, Universite Paris Descartes, 75270 Paris, France;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom Faculte de Medecine, Universite Paris Descartes, 75270 Paris, France;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, Francern Faculte de Medecine, Universite Paris Descartes, 75270 Paris, France;

  Institut Pasteur de Montevideo, CP11400 Montevideo, Uruguay;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205 Department of Molecular and Comparative Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205;

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205 Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205 Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205 Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, Durham, NC 27708;

  Institut National de la Sante et de la Recherche Medicale U781, 6 Service de Genetique, Hopital Necker-Enfants-Malades, AP-HP, 75743 Paris, France Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom;

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• 收录信息 美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
• 原文格式 PDF
• 正文语种 eng
• 中图分类
• 关键词

  Bardet-Biedl; neural crest cells; genetic interaction; zebrafish;

  机译：Bardet-Biedl;神经c细胞基因相互作用;斑马鱼;