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- W3108590102 abstract "Ciliopathies are a collection of disorders related to cilia dysfunction. Cilia are specialized organelles that project from the surface of most cells. Motile and primary (sensory) cilia are essential structures and have wide ranging functions. Our understanding of the genetics, pathophysiology, and clinical manifestations of motile ciliopathies, including primary ciliary dyskinesia (PCD), has rapidly advanced since the disease was linked to ciliary ultrastructural defects nearly 5 decades ago. We will provide an overview of different types of cilia, their role in child health and disease, focusing on motile ciliopathies, and describe recent advances that have led to improved diagnostics and may yield therapeutic targets to restore ciliary structure and function. Primary ciliary dyskinesia: A neonatal disease?The Journal of PediatricsVol. 230PreviewIn this volume of The Journal, Horani and Ferkol update our current understanding of primary ciliary dyskinesia and other ciliopathies. Although neonatologists may be tempted to bypass this article, it is relevant to newborn patients because ciliary function and diseases are of increasing importance in fetal development (eg, determination of body laterality) and neonatal illnesses. The authors report that the majority of infants with primary ciliary dyskinesia present with early and prolonged neonatal respiratory distress or with laterality disorders. Full-Text PDF" @default.
- W3108590102 created "2020-12-07" @default.
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- W3108590102 date "2021-03-01" @default.
- W3108590102 modified "2023-10-18" @default.
- W3108590102 title "Understanding Primary Ciliary Dyskinesia and Other Ciliopathies" @default.
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- W3108590102 doi "https://doi.org/10.1016/j.jpeds.2020.11.040" @default.
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