Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by impaired ciliary function that leads to an array of clinical manifestations including chronic bronchitis, chronic sinusitis, chronic otitis media, situs inversus (in approximately 50% of cases), and infertility. The underlying ...
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Making a definitive diagnosis is challenging, utilizing characteristic phenotypes, ciliary ...
PrimaryCiliaryDyskinesia JasonLobo,MD[AssistantProfessorofMedicine],MaimoonaAZariwala,PhD[Associate ProfessorofMedicineandLaboratoryMedicine],andPeadarGNoone,MD,FCCP,FRCPI [ProfessorofMedicine] TheDivisionofPulmonaryDiseases,UniversityofNorthCarolinaChapelHill,NC27599 Abstract Primaryciliarydyskinesia(PCD)isanautosom...
Abnormal ciliary beat pattern Immunofluorescence testing of ciliary proteins Absent fluorescence of ciliary proteins in specific axonemal components NGS = next generation sequencing; nNO = nasal nitric oxide; PCD = primary ciliary dyskinesia; TEM = transmission electron microscopy; VUS = variant of uncer...
关键词:群体测序;基因测序;变异检测;文献简介标题(英文):Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China标题(…
Primary ciliary dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting ciliary function. Genes coding for various ciliary structural proteins or cytoplasmic proteins responsible for the assembly of cilia can be mutated resulting in abnormal ciliary function. However, despite the diversity of ...
Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in a myriad of clinical manifestations including recurrent sinopulmonary disease, laterality defects and infertility. The heterogenous clinical presentation of primary ciliary dy...
[Professor of Medicine]The Division of Pulmonary Diseases, University of North Carolina Chapel Hill, NC 27599AbstractPrimary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems ...
Primary ciliary dyskinesia (PCD) is a phenotypically and genetically heterogeneous disorder manifested as dysfunction of motile cilia. Recent investigations using medaka and zebrafish as disease model systems have contributed to the current understanding of the formation and function of motile cilia. This ...
Primary ciliary dyskinesia (PCD) is a genetic disorder caused by abnormal function, and anatomy of the epithelial cilia. The abnormality in the cilia can result in nonmotile or abnormally motile cilia. The estimated incidence ranges from 1:7500 to 1:20,000 (Hannah WB, Lancet Respir Med 10:...