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纤毛相关疾病。

Cilia-related diseases.

机构信息

Hubei Key Laboratory of Diabetes and Angiopathy, Medicine Research Institute, Xianning Medical College, Hubei University of Science and Technology, Xianning, P. R. China.

School of Basic Medical Sciences, Xianning Medical College, Hubei University of Science and Technology, Xianning, P. R. China.

出版信息

J Cell Mol Med. 2023 Dec;27(24):3974-3979. doi: 10.1111/jcmm.17990. Epub 2023 Oct 13.

DOI:10.1111/jcmm.17990
PMID:37830491
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10746950/
Abstract

More and more attention is paid to diseases such as internal transfer and brain malformation which are caused by the abnormal morphogenesis of cilia. These cilia-related diseases are divided into two categories: ciliopathy resulting from defects of primary cilia and primary ciliary dyskinesia (PCD) caused by functional dysregulation of motile cilia. Cilia are widely distributed, and their related diseases can cover many human organs and tissues. Recent studies prove that primary cilia play a key role in maintaining homeostasis in the cardiovascular system. However, molecular mechanisms of cilia-related diseases remain elusive. Here, we reviewed recent research progresses on characteristics, molecular mechanisms and treatment methods of ciliopathy and PCD. Our review is beneficial to the further research on the pathogenesis and treatment strategies of cilia-related diseases.

摘要

越来越多的人关注到内部转移和脑部畸形等疾病,这些疾病是由纤毛异常形态发生引起的。这些与纤毛相关的疾病分为两类:由原发性纤毛缺陷引起的纤毛病和由运动纤毛功能失调引起的原发性纤毛运动障碍(PCD)。纤毛分布广泛,其相关疾病可以涉及许多人体器官和组织。最近的研究证明,原发性纤毛在维持心血管系统内环境稳定方面起着关键作用。然而,与纤毛相关疾病的分子机制仍不清楚。在这里,我们综述了纤毛病和 PCD 的特征、分子机制和治疗方法的最新研究进展。我们的综述有助于进一步研究纤毛相关疾病的发病机制和治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/0a29d35d8ba7/JCMM-27-3974-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/62af449b2086/JCMM-27-3974-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/b8140abb570c/JCMM-27-3974-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/0a29d35d8ba7/JCMM-27-3974-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/62af449b2086/JCMM-27-3974-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/b8140abb570c/JCMM-27-3974-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51bc/10746950/0a29d35d8ba7/JCMM-27-3974-g003.jpg

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Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations.原发性纤毛运动障碍的慢性气道疾病——充满了基因表型关联。
基于纤毛相关蛋白研究香烟烟雾诱导的大鼠气道炎症和精子活性损伤。
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FBB18 is a ubiquitin-like protein essential for the cytoplasmic preassembly of various ciliary dyneins.FBB18是一种类泛素蛋白,对各种纤毛动力蛋白的细胞质预组装至关重要。
Proc Natl Acad Sci U S A. 2025 Mar 25;122(12):e2423948122. doi: 10.1073/pnas.2423948122. Epub 2025 Mar 19.
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Case report: ZFYVE19 gene mutation is associated with familial cholestasis.病例报告:ZFYVE19基因突变与家族性胆汁淤积症相关。
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