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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI
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Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI

机译:I型神经纤维瘤病基因NFI的斑马鱼直系同源物的心脏和血管功能

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摘要

Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin. Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models. Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein that modulates the activity of Ras. Here, we describe the identification and characterization of zebrafish nf1a and nf1b, orthologues of NF1, and show neural crest and cardiovascular defects resulting from morpholino knockdown, including vascular and cardiac valvular abnormalities. Development of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function analysis and genetic screens in this tractable vertebrate system.
机译:冯·瑞克林豪森神经纤维瘤病是一种常见的常染色体显性遗传疾病,其特征是神经c起源的良性和恶性肿瘤。近年来,在了解这种疾病的病理生理学方面取得了重大进展,这在很大程度上得益于相关动物模型的发展。冯·瑞克林豪森神经纤维瘤病是由NF1基因突变引起的,该基因编码神经纤维蛋白,一种调节Ras活性的大蛋白。在这里,我们描述了斑马鱼NF1直系同源物斑马鱼nf1a和nf1b的鉴定和特征,并显示了吗啉代敲除导致的神经rest和心血管缺陷,包括血管和心脏瓣膜异常。冯·瑞克林豪森神经纤维瘤病的斑马鱼模型的开发将允许在这个易处理的脊椎动物系统中进行结构功能分析和基因筛选。

著录项

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  • 作者单位

    Department of Cell and Developmental Biology, Penn Cardiovascular Institute, and the Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104;

    Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115;

    Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104;

    Department of Cell and Developmental Biology, Penn Cardiovascular Institute, and the Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104;

    Program in Gene Function and Expression, University of Massachusetts Medical School, Worcester, MA 06105;

    Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115;

    Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115;

    Department of Cell and Developmental Biology, Penn Cardiovascular Institute, and the Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104;

  • 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

    cardiovascular; neurofibromin;

    机译:心血管;神经纤维蛋白;

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