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- W2984342280 endingPage "194433" @default.
- W2984342280 startingPage "194433" @default.
- W2984342280 abstract "Primary cilia are essential signalling organelles found on the apical surface of epithelial cells, where they coordinate chemosensation, mechanosensation and light sensation. Motile cilia play a central role in establishing fluid flow in the respiratory tract, reproductive tract, brain ventricles and ear. Genetic defects affecting the structure or function of cilia can lead to a broad range of developmental and degenerative diseases known as ciliopathies. Splicing contributes to the pathogenesis, diagnosis and treatment of ciliopathies. Tissue-specific alternative splicing contributes to the tissue-specific manifestation of ciliopathy phenotypes, for example the retinal-specific effects of some genetic defects, due to specific transcript expression in the highly specialised ciliated cells of the retina, the photoreceptor cells. Ciliopathies can arise both as a result of genetic variants in spliceosomal proteins, or as a result of variants affecting splicing of specific cilia genes. Here we discuss the opportunities and challenges in diagnosing ciliopathies using RNA sequence analysis and the potential for treating ciliopathies in a relatively mutation-neutral way by targeting splicing. This article is part of a Special Issue entitled: RNA structure and splicing regulation edited by Francisco Baralle, Ravindra Singh and Stefan Stamm." @default.
- W2984342280 created "2019-11-22" @default.
- W2984342280 creator A5014146630 @default.
- W2984342280 creator A5037760155 @default.
- W2984342280 creator A5066199693 @default.
- W2984342280 date "2019-11-01" @default.
- W2984342280 modified "2023-10-18" @default.
- W2984342280 title "Splicing in the pathogenesis, diagnosis and treatment of ciliopathies" @default.
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