原发性纤毛运动障碍的展望。
Perspectives for Primary Ciliary Dyskinesia.
机构信息
Institute of Human Genetics PAS, 60-479 Poznan, Poland.
出版信息
Int J Mol Sci. 2022 Apr 8;23(8):4122. doi: 10.3390/ijms23084122.
Abstract
Primary ciliary dyskinesia (PCD) is a ciliopathy caused by genetically determined impairment of motile cilia-organelles present on the surface of many types of cells [...].
摘要
原发性纤毛运动障碍（PCD）是一种纤毛病，由运动纤毛器官的基因决定的功能障碍引起，这些器官存在于许多类型的细胞表面[...]。
相似文献
1
Perspectives for Primary Ciliary Dyskinesia.原发性纤毛运动障碍的展望。
Int J Mol Sci. 2022 Apr 8;23(8):4122. doi: 10.3390/ijms23084122.
2
Truncating mutations in exons 20 and 21 of can cause primary ciliary dyskinesia without associated syndromic symptoms.可以导致原发性纤毛运动障碍而没有相关的综合征症状的 外显子 20 和 21 截断突变。
J Med Genet. 2019 Nov;56(11):769-777. doi: 10.1136/jmedgenet-2018-105918. Epub 2019 Jul 31.
3
Cilia-related diseases.纤毛相关疾病。
J Cell Mol Med. 2023 Dec;27(24):3974-3979. doi: 10.1111/jcmm.17990. Epub 2023 Oct 13.
4
Ciliary defects and genetics of primary ciliary dyskinesia.纤毛缺陷与原发性纤毛运动障碍的遗传学
Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18.
5
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.NME5 中的无意义变异导致具有辐射辐条缺陷的人类原发性纤毛运动障碍。
Clin Genet. 2020 Jul;98(1):64-68. doi: 10.1111/cge.13742. Epub 2020 Mar 25.
6
Motile cilia and airway disease.纤毛运动障碍与气道疾病
Semin Cell Dev Biol. 2021 Feb;110:19-33. doi: 10.1016/j.semcdb.2020.11.007. Epub 2020 Dec 2.
7
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.斑马鱼纤毛病筛查加人类突变分析确定 C21orf59 和 CCDC65 缺陷为原发性纤毛运动障碍的致病原因。
Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.
8
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia.恢复纤毛功能：原发性纤毛运动障碍的基因治疗。
Hum Gene Ther. 2023 Sep;34(17-18):821-835. doi: 10.1089/hum.2023.102.
9
Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.罕见人类疾病：模型生物在原发性纤毛运动障碍分子基础解析中的应用。
Cells. 2019 Dec 11;8(12):1614. doi: 10.3390/cells8121614.
10
Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.通过斑马鱼的功能基因组学进行新型纤毛基因的系统性发现。
Development. 2014 Sep;141(17):3410-9. doi: 10.1242/dev.108209.
引用本文的文献
1
Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting.南非资源有限环境下用于原发性纤毛运动障碍诊断的超微结构
Front Pediatr. 2023 Aug 14;11:1247638. doi: 10.3389/fped.2023.1247638. eCollection 2023.
2
Single-cell transcriptomes reveal heterogeneity of chlorine-induced mice acute lung injury and the inhibitory effect of pentoxifylline on ferroptosis.单细胞转录组揭示氯诱导的小鼠急性肺损伤的异质性和己酮可可碱对铁死亡的抑制作用。
Sci Rep. 2023 Apr 26;13(1):6833. doi: 10.1038/s41598-023-32093-7.
本文引用的文献
1
Expression of a Truncated Form of Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.与一种异常轻度的原发性纤毛运动障碍表型相关的截断形式的表达。
Int J Mol Sci. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753.
2
PCD Genes-From Patients to Model Organisms and Back to Humans.PCD 基因——从患者到模式生物，再回到人类。
Int J Mol Sci. 2022 Feb 3;23(3):1749. doi: 10.3390/ijms23031749.
3
Current and Future Treatments in Primary Ciliary Dyskinesia.原发性纤毛运动障碍的当前和未来治疗方法。
Int J Mol Sci. 2021 Sep 11;22(18):9834. doi: 10.3390/ijms22189834.
4
Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.新型遗传变异的鉴定和分类：原发性纤毛运动障碍诊断之路。
Int J Mol Sci. 2021 Aug 17;22(16):8821. doi: 10.3390/ijms22168821.
5
Zebrafish Motile Cilia as a Model for Primary Ciliary Dyskinesia.斑马鱼游动纤毛作为原发性纤毛运动障碍的模型。
Int J Mol Sci. 2021 Aug 4;22(16):8361. doi: 10.3390/ijms22168361.
6
Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.原发性纤毛运动障碍的新兴基因型-表型关系。
Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272.
7
The Antimicrobial Activity of Peripheral Blood Neutrophils Is Altered in Patients with Primary Ciliary Dyskinesia.原发性纤毛运动障碍患者外周血中性粒细胞的抗菌活性发生改变。
Int J Mol Sci. 2021 Jun 8;22(12):6172. doi: 10.3390/ijms22126172.
8
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Gene.缺乏该基因的大鼠中的半致死性原发性纤毛运动障碍
Int J Mol Sci. 2021 Apr 7;22(8):3810. doi: 10.3390/ijms22083810.
9
Primary ciliary dyskinesia: a major player in a bigger game.原发性纤毛运动障碍：更大图景中的重要角色。
Breathe (Sheff). 2020 Jun;16(2):200047. doi: 10.1183/20734735.0047-2020.
10
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.NME5 中的无意义变异导致具有辐射辐条缺陷的人类原发性纤毛运动障碍。
Clin Genet. 2020 Jul;98(1):64-68. doi: 10.1111/cge.13742. Epub 2020 Mar 25.
Zotero 插件