publication . Other literature type . Article . 2006

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Jose L. Badano; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis;
  • Published: 01 Sep 2006
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 ...
Subjects
free text keywords: Genetics(clinical), Genetics, Molecular Biology, Biology, Ciliogenesis, Intraflagellar transport, Ciliopathy, medicine.disease, medicine, Cilium, Primary ciliary dyskinesia, Ciliary base, Bardet–Biedl syndrome, Ciliary transition zone
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publication . Other literature type . Article . 2006

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Jose L. Badano; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis;