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Primary ciliary dyskinesia: keep it on your radar.

作者信息

Rosenfeld Margaret, Ostrowski Lawrence E, Zariwala Maimoona A

机构信息

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

Department of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

出版信息

Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13.

DOI:10.1136/thoraxjnl-2017-210776
PMID:29133352
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6040643/
Abstract
摘要

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本文引用的文献

1
Variant Interpretation: Functional Assays to the Rescue.变异解读：功能测定来帮忙。
Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014.
2
High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.原发性纤毛运动障碍相关 p.His154Pro 突变的高发生率会破坏蛋白寡聚化，且与正常的诊断检查相关。
Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8.
3
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.丝氨酸/苏氨酸蛋白激酶36（STK36）突变导致原发性纤毛运动障碍并伴有中央微管对缺失。
Hum Mutat. 2017 Aug;38(8):964-969. doi: 10.1002/humu.23261. Epub 2017 Jun 15.
4
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.鼻一氧化氮测量作为原发性纤毛运动障碍诊断试验的准确性：一项系统评价和荟萃分析
Ann Am Thorac Soc. 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR.
5
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.X 连锁原发性纤毛运动障碍与细胞质轴丝动力蛋白装配因子 PIH1D3 突变有关。
Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.
6
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.PIH1D3基因的突变导致伴有外动力蛋白臂和内动力蛋白臂缺陷的X连锁原发性纤毛运动障碍。
Am J Hum Genet. 2017 Jan 5;100(1):160-168. doi: 10.1016/j.ajhg.2016.11.019. Epub 2016 Dec 29.
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Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.
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Am J Hum Genet. 2016 Aug 4;99(2):460-9. doi: 10.1016/j.ajhg.2016.06.014.
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Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.儿童和青少年原发性纤毛运动障碍的临床特征及相关可能性
Ann Am Thorac Soc. 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.