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- W1858547598 abstract "Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. However, unlike many Mendelian genetic disorders, PCD is not caused by mutations in a single gene or locus, but rather, autosomal recessive mutation in one of many genes that lead to a similar phenotype. The first reported PCD mutations, more than a decade ago, identified genes encoding known structural components of the ciliary axoneme. In recent years, mutations in genes encoding novel cytoplasmic and regulatory proteins have been discovered. These findings have provided new insights into the functions of the motile cilia, and a better understanding of motile cilia disease. Advances in genetic tools will soon allow more precise genetic testing, mandating that clinicians must understand the genetic basis of PCD. Here, we review genetic mutations, their biological impact on cilia structure and function, and the implication of emerging genetic diagnostic tools." @default.
- W1858547598 created "2016-06-24" @default.
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- W1858547598 creator A5080795341 @default.
- W1858547598 date "2016-03-01" @default.
- W1858547598 modified "2023-10-18" @default.
- W1858547598 title "Genetics and biology of primary ciliary dyskinesia" @default.
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- W1858547598 doi "https://doi.org/10.1016/j.prrv.2015.09.001" @default.
- W1858547598 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4864047" @default.
- W1858547598 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26476603" @default.
- W1858547598 hasPublicationYear "2016" @default.
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