The ciliopathies: an emerging class of human genetic disorders.
Annu Rev Genomics Hum Genet
; 7: 125-48, 2006.
Article
em En
| MEDLINE
| ID: mdl-16722803
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Motilidade Ciliar
/
Proteínas Motores Moleculares
Limite:
Humans
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article