| 柳林1 纪伟2.纤毛疾病和与之相关的基因[J].,2012,12(2):373-376 |
| 纤毛疾病和与之相关的基因 |
| Ciliary Disease and the Related Genes |
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| DOI： |
| 中文关键词: 纤毛 Nephronophthisis Joubert 综合症 Meckel-Gruber 综合症 Bardet Biedl 综合症 |
| 英文关键词: Cilia Nephronophthisis Joubert Syndrome Meckel-Gruber Syndrome Bardet Biedl Syndrome |
| 基金项目:广西卫生厅重点项目（重200925） |
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| 中文摘要: |
| 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Bardet
Biedl 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。 |
| 英文摘要: |
| 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 Syndrome,
Meckel-Gruber Syndrome and Bardet Biedl Syndrome. |
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