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• W2135979384 startingPage "125" @default.
• W2135979384 abstract "Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value." @default.
• W2135979384 created "2016-06-24" @default.
• W2135979384 creator A5032274402 @default.
• W2135979384 creator A5045179302 @default.
• W2135979384 creator A5070413566 @default.
• W2135979384 creator A5087188238 @default.
• W2135979384 date "2006-09-01" @default.
• W2135979384 modified "2023-10-10" @default.
• W2135979384 title "The Ciliopathies: An Emerging Class of Human Genetic Disorders" @default.
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