{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T15:56:57Z","timestamp":1792166217916,"version":"4.4.0"},"reference-count":194,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["U54HL096458"],"award-info":[{"award-number":["U54HL096458"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["U2CTR002818"],"award-info":[{"award-number":["U2CTR002818"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["HL071798"],"award-info":[{"award-number":["HL071798"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["HL117836"],"award-info":[{"award-number":["HL117836"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["TR3860"],"award-info":[{"award-number":["TR3860"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["AI146999"],"award-info":[{"award-number":["AI146999"]}]},{"name":"Genetic Disorders of Mucociliary Clearance Consortiu","award":["HG009650"],"award-info":[{"award-number":["HG009650"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["U54HL096458"],"award-info":[{"award-number":["U54HL096458"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["U2CTR002818"],"award-info":[{"award-number":["U2CTR002818"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["HL071798"],"award-info":[{"award-number":["HL071798"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["HL117836"],"award-info":[{"award-number":["HL117836"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["TR3860"],"award-info":[{"award-number":["TR3860"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["AI146999"],"award-info":[{"award-number":["AI146999"]}]},{"name":"RDCRN Data Management and Coordinating Center (DMCC)","award":["HG009650"],"award-info":[{"award-number":["HG009650"]}]},{"name":"NIH grants","award":["U54HL096458"],"award-info":[{"award-number":["U54HL096458"]}]},{"name":"NIH grants","award":["U2CTR002818"],"award-info":[{"award-number":["U2CTR002818"]}]},{"name":"NIH grants","award":["HL071798"],"award-info":[{"award-number":["HL071798"]}]},{"name":"NIH grants","award":["HL117836"],"award-info":[{"award-number":["HL117836"]}]},{"name":"NIH grants","award":["TR3860"],"award-info":[{"award-number":["TR3860"]}]},{"name":"NIH grants","award":["AI146999"],"award-info":[{"award-number":["AI146999"]}]},{"name":"NIH grants","award":["HG009650"],"award-info":[{"award-number":["HG009650"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies on a combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure analysis via transmission electron microscopy (TEM), and genetic testing. Notably, there is no single gold standard confirmatory or exclusionary test. Currently, 54 causative genes involved in cilia assembly, structure, and function have been linked to PCD; this rare disease has a spectrum of clinical manifestations and emerging genotype\u2013phenotype relationships. In this review, we provide an overview of the structure and function of motile cilia, the emerging genetics and pathophysiology of this rare disease, as well as clinical features associated with motile ciliopathies, novel diagnostic tools, and updates on genotype\u2013phenotype relationships in PCD.<\/jats:p>","DOI":"10.3390\/cells13110974","type":"journal-article","created":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T05:17:30Z","timestamp":1717478250000},"page":"974","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":106,"title":["Primary Ciliary Dyskinesia: A Clinical Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8464-6946","authenticated-orcid":false,"given":"Katherine A.","family":"Despotes","sequence":"first","affiliation":[{"name":"Department of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"},{"name":"Marsico Lung Institute, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie D.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Ferkol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"},{"name":"Marsico Lung Institute, UNC School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1247638","DOI":"10.3389\/fped.2023.1247638","article-title":"Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting","volume":"11","author":"Birkhead","year":"2023","journal-title":"Front. 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