The ciliopathies: an emerging class of human genetic disorders.

  title={The ciliopathies: an emerging class of human genetic disorders.},
  author={J. Badano and N. Mitsuma and P. Beales and N. Katsanis},
  journal={Annual review of genomics and human genetics},
  • J. Badano, N. Mitsuma, +1 author N. Katsanis
  • Published 2006
  • Biology, Medicine
  • Annual review of genomics and human genetics
  • 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… CONTINUE READING
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