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纤毛在发育障碍和疾病中的作用。

The roles of cilia in developmental disorders and disease.

作者信息

Bisgrove Brent W, Yost H Joseph

机构信息

Huntsman Cancer Institute Center for Children, Department of Oncological Sciences, University of Utah, Salt Lake City, UT 84112, USA.

出版信息

Development. 2006 Nov;133(21):4131-43. doi: 10.1242/dev.02595. Epub 2006 Oct 4.

DOI:10.1242/dev.02595
PMID:17021045
Abstract

Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. By categorizing syndromes that are due to cilia dysfunction in humans and from studies in vertebrate model organisms, molecular pathways that intersect with cilia formation and function have come to light. Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia.

摘要

纤毛是高度保守的细胞器,具有多种运动和传感功能。最近的发现表明,纤毛在细胞信号通路和维持细胞内稳态方面也起着关键作用。因此,纤毛形成或功能的缺陷对身体模式的发育和多个器官系统的生理功能有深远影响。通过对人类因纤毛功能障碍引起的综合征进行分类以及对脊椎动物模型生物的研究,与纤毛形成和功能相关的分子途径已被揭示。在此,我们总结了一种新出现的观点,即要理解一些复杂的发育途径和疾病病因,就必须考虑纤毛所执行的分子功能。

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