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家族性中枢神经系统海绵状血管畸形致病基因的研究进展 被引量:1

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摘要 本文首先简要介绍家族性中枢神经系统海绵状血管畸形(Familial cerebral cavernous malformation,FCCM)发病特点及临床治疗,然后主要从分子遗传学的角度,介绍该病致病基因的研究进展,特别是CCM2/MGC4607和CCM3/PDCD10这两个基因的最新研究成果,从而对该疾病在分子遗传学水平的发生发展有更深入的了解。由于基因突变是本病发生的明确致病因素,可见对其深入的研究可以为病因学分子病理学以及基因诊断学奠定坚实的基础,同时为今后的临床治疗乃至基因治疗提供新的治疗方法与手段。
出处 《国际神经病学神经外科学杂志》 2009年第4期372-375,共4页 Journal of International Neurology and Neurosurgery
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同被引文献22

  • 1Yuan Zhu,Christian P,Monika HN,et al.Phosphatase and tensin homolog in cerebral cavernous malformation:a potential role in pathological angiogenesis. Journal of Neurosurgery . 2009
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  • 7Srinivasa RN,Burrows PE.Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome. American Journal of Neuroradiology . 2006
  • 8Skinner HD,Zheng JZ,Fang J,et al.Vascular endothelial growth factor transcriptional activation is mediated by hypoxia-inducible factor 1alpha, HDM2, and p70S6K1 in response to phosphatidylinositol 3-kinase/AKT signaling. Journal of Biological Chemistry . 2004
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