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• W1982682976 abstract "Cilia are evolutionarily conserved hair-like structures with key roles in cell locomotion, fluid movement, and sexual reproduction. Recent studies have shown that cilia also sense the extracellular environment and are important signaling organelles, which direct embryonic development and organ function. Abnormal ciliary axonemal structure and function have been linked to the growing class of genetic disorders collectively known as ciliopathies.The prototypical ciliopathy, primary ciliary dyskinesia (PCD), was the first human disorder linked to ciliary dysfunction, described over a century ago, and since then, our understanding of the genetic and molecular abnormalities of this disease have greatly advanced [1-3]. The importance of cilia in other human diseases are just beginning to be elucidated, and defects have been associated with a growing number of pediatric conditions, including obesity, renal disease, hepatic fibrosis, skeletal dysplasias, endocrinopathies, neurodevelopmental defects, central nervous system (CNS) anomalies, laterality defects, and congenital heart disease (CHD) [2-5]. Research into ciliopathies has rapidly expanded, involving multidisciplinary efforts to define the complex genetics and functional phenotypes of cilia. In this review, we will describe ciliary ultrastructure and function, genetics, clinical characteristics, and overlapping features of these diverse diseases." @default.
• W1982682976 created "2016-06-24" @default.
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• W1982682976 date "2012-03-01" @default.
• W1982682976 modified "2023-10-09" @default.
• W1982682976 title "Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders" @default.
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• W1982682976 doi "https://doi.org/10.1016/j.jpeds.2011.11.024" @default.
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