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纤毛疾病和与之相关的基因 被引量：2

Ciliary Disease and the Related Genes
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摘要 近年来,研究发现纤毛在生成或者形态的缺陷均能导致新生儿遗传性疾病。与其他细胞器不同的是,纤毛这一小的毛发状细胞器能在几乎所有的极性细胞表面上生成,而且功能非常多样化。纤毛在调节脊椎动物的发育和内环境的平衡起着相当重要的作用,而与纤毛相关基因的缺失则与一系列疾病相关,包括:Nephronophthisis、Joubert综合症、Meckel-Gruber综合症和BardetBiedl综合症等。结合最近的研究,本文主要对四类主纤毛相关疾病的基因进行归类总结。 Recently,Cilia has been added to a well-known causes of human diseases.Unlike other cellular organelles,cilia are tiny hair-like organelles that attached to the cell surface,and are located on almost all polarized cell types of the human body.Cilia play a crucial role in regulating vertebrate development and tissue homeostasis.The various cellular functions of cilia explain why cilia-related disorders can affect many organ systems.Defects in ciliary genes cause lots of ciliary diseases,such as： Nephronophthisis,Joubert Syn-drome,Meckel-Gruber Syndrome and Bardet Biedl Syndrome.
作者 柳林 纪伟
机构地区 华中科技大学生命科学与技术学院分子生物物理教育部重点实验室 中国科学院生物物理研究所生物大分子国家重点实验室
出处 《现代生物医学进展》 CAS 2012年第2期373-376,共4页 Progress in Modern Biomedicine
关键词 纤毛 NEPHRONOPHTHISIS Joubert综合症 Meckel-Gruber综合症 Bardet Biedl综合症 Cilia Nephronophthisis Joubert Syndrome Meckel-Gruber Syndrome Bardet Biedl Syndrome
分类号 Q784 [生物学—分子生物学]
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参考文献32

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同被引文献26

  • 1向斌,周智广,黄干,杨琳,张翼.人羧基肽酶H原核表达载体的构建及其应用[J].中国糖尿病杂志,2007,15(2):84-86. 被引量：3
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现代生物医学进展
2012年 第2期

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