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打还是不打,这是个问题!纤毛病谱。

To beat, or not to beat, that is question! The spectrum of ciliopathies.

机构信息

Pediatric Respirology, Department of Pediatrics, University Hospital Liège, Liège, Belgium.

Division of Respirology, Department of Pediatrics, University of British Columbia and British Columbia Children's Hospital, Vancouver, BC, Canada.

出版信息

Pediatr Pulmonol. 2018 Aug;53(8):1122-1129. doi: 10.1002/ppul.24078. Epub 2018 Jun 25.

Abstract

Cilia are widely distributed throughout the human body, and have numerous roles in physiology, development, and disease. Ciliary ultrastructure is complex, consisting of nine parallel microtubules doublets, with or without motor dynein arms and a central pair of microtubules. Classification of cilia has evolved over time, and currently, four main classes are described: motile and non-motile cilia with a "9 + 2" structure, and motile and non-motile cilia with a "9 + 0" structure, which depend on the presence or absence of dynein arms and a central pair. Ciliopathies are inherited multisystem disorders of cilia, and may present with a varied spectrum of genotypes and phenotypes. Motor and sensory ciliopathies were historically considered as distinct dysfunctions of motile and non-motile cilia, but recent data indicate that the classical features of motor and sensory cilia may overlap.

摘要

纤毛广泛分布于人体各处,在生理学、发育和疾病中具有多种功能。纤毛的超微结构复杂,由九组平行的微管二联体组成,具有或不具有运动动力蛋白臂和中央对微管。纤毛的分类随着时间的推移而演变,目前描述了四种主要类型:具有“9+2”结构的运动和非运动纤毛,以及具有“9+0”结构的运动和非运动纤毛,这取决于是否存在动力蛋白臂和中央对。纤毛病是纤毛的遗传性多系统疾病,其基因型和表型可能表现出多样的谱。运动和感觉纤毛病在历史上被认为是运动和非运动纤毛的不同功能障碍,但最近的数据表明,运动和感觉纤毛的经典特征可能重叠。

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