Primary Ciliary DyskinesiaJason Lobo, MD [Assistant Professor of Medicine], Maimoona A Zariwala, PhD [Associate Professor of Medicine and Laboratory Medicine], and Peadar G Noone, MD, FCCP, FRCPI [Professor of
Secondary ciliary dyskinesia may be seen in diseases associated with acute and chronic airway inflammation and infection. This review will focus primarily on PCD, the genetically transmitted form of the disease, with a brief review of the structure and function of normal and dysfunctional cilia, ...
Primary ciliary dyskinesia (PCD), also known as immotile-cilia syndrome, is an autosomal recessive disorder leading to an impairment that affects mucociliary clearance . Primary ciliary dyskinesia is caused by defective ciliary function in the airways and is characterized by the loss of oscillation ...
Primary ciliary dyskinesia (PCD) is one of an expanding collection of disorders collectively known as ciliopathies. A rare, inherited disease of the motile cilia, PCD is clinically characterized by chronic upper and lower airway disease, left-right laterality defects, and infertility caused by cilia...
atypicalprimaryciliarydyskinesia MPifferi, 1 FMontemurro, 2 AMCangiotti, 3 VRagazzo, 1 MDiCicco, 1 BVinci, 2 GVozzi, 2 PMacchia, 1 ALBoner 4 cAdditionalmethodsandvideo clipsarepublishedonlineonlyat http://thorax.bmj/content/ vol64/issue12 ...
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 genetically and clinically heterogeneous disease, and an underdiagnosed cause ofbronchiectasis.33This syndrome is caused by genetic mutations, usually inherited in anautosomal recessivepattern, affectingmotile cilia, causing disease of the upper and lower airways.34 ...
Immotile cilia syndrome (ICS) is an autosomal recessive disease with extensive genetic heterogeneity characterized by abnormal ciliary motion and impaired mucociliary clearance. Ultrastructural and functional defects of cilia result in the lack of effect
Review nature publishing group Picking up speed: advances in the genetics of primary ciliary dyskinesia Amjad Horani1, Steven L. Brody2 and Thomas W. Ferkol1,3 Abnormal ciliary axonemal structure and function are linked to the growing class of genetic disorders collectively known as ciliopathies...
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been ...