Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
نویسندگان
چکیده
منابع مشابه
Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required.
Primary ciliary dyskinesia (PCD) results in chronic nasal symptoms and chest disease leading to bronchiectasis. We noted a number of patients referred for diagnostic testing whose initial results suggested PCD due to an inner dynein arm or radial spoke defect but in whom no abnormality was found on retesting. The present study was an audit of all patients referred for PCD diagnostic testing ove...
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Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chrom...
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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by recurrent infections of the airways and randomization of left/right body asymmetry. The phenotype results from dysfunction of motile cilia of the respiratory epithelium and the embryonic node. Dysmotile sperm tails often cause infertility in male PCD patients. Underlying ultrastructural defects frequently ...
متن کاملDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
RATIONALE Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS We screened 109 white PCD families originating from Europe and North America for pre...
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A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment ...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2011
ISSN: 0903-1936,1399-3003
DOI: 10.1183/09031936.00108410