2006/07/07 by José L. Badano, Norimasa Mitsuma, Phil Beales +1 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genetic and Kidney Cyst Diseases #Hedgehog Signaling Pathway Studies #Renal and related cancers
paper · doi:10.1146/annurev.genom.7.080505.115610
openalex publication_date 2006/07/07 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.