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Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.

作者信息

Leigh Margaret W, Horani Amjad, Kinghorn BreAnna, O'Connor Michael G, Zariwala Maimoona A, Knowles Michael R

机构信息

Department of Pediatrics and Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Transl Sci Rare Dis. 2019;4(1-2):51-75. doi: 10.3233/TRD-190036. Epub 2019 Jul 4.

Abstract
摘要

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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.
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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.
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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review.
Arch Dis Child Educ Pract Ed. 2019 Oct;104(5):265-269. doi: 10.1136/archdischild-2017-312902. Epub 2018 Aug 3.
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Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.
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Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Eur Respir J. 2018 Aug 23;52(2). doi: 10.1183/13993003.01040-2018. Print 2018 Aug.
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ZMYND10 functions in a chaperone relay during axonemal dynein assembly.
Elife. 2018 Jun 19;7:e34389. doi: 10.7554/eLife.34389.
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Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.
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