IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Nat Genet
; 39(6): 727-9, 2007 Jun.
Article
em En
| MEDLINE
| ID: mdl-17468754
ABSTRACT
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Asfixia
/
Doenças Torácicas
/
Doenças do Desenvolvimento Ósseo
/
Peixe-Zebra
/
Proteínas de Transporte
/
Tetrahymena thermophila
/
Doenças Renais Císticas
/
Mutação
Limite:
Animals
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article