Article
The ciliopathies: an emerging class of human genetic disorders.
Annual review of genomics and human genetics - 1 Jan 2006
Badano Jose L, Mitsuma Norimasa, Beales Phil L, Katsanis Nicholas
Abstract excerpt
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,...
Topics
- Ciliary Motility Disorders
- Genetic Diseases, Inborn
- Humans
- Molecular Motor Proteins
- Mutation
- Phenotype