梅克尔-格鲁伯综合征以及初级纤毛在肾脏、骨骼和中枢神经系统发育中的作用。
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
作者信息
Barker Amy R, Thomas Rhys, Dawe Helen R
机构信息
College of Life and Environmental Sciences; University of Exeter; Exeter, UK.
出版信息
Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9.
Abstract
The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.
摘要
纤毛病是一组相关的遗传性疾病，其特征是器官发育畸形。这些疾病会影响多个器官系统，经常观察到肾脏、骨骼和脑部畸形。过去十年的研究表明，这些疾病是由于初级纤毛缺陷所致，初级纤毛是人体大多数细胞上存在的重要感觉细胞器。在这里，我们讨论最严重的纤毛病之一——梅克尔-格鲁伯综合征的遗传和细胞生物学基础，并解释初级纤毛如何影响受累器官系统的发育。
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