| Literature DB >> 17468754 |
Philip L Beales1, Elizabeth Bland, Jonathan L Tobin, Chiara Bacchelli, Beyhan Tuysuz, Josephine Hill, Suzanne Rix, Chad G Pearson, Masatake Kai, Jane Hartley, Colin Johnson, Melita Irving, Nursel Elcioglu, Mark Winey, Masazumi Tada, Peter J Scambler.
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.Entities:
Mesh：
Substances：
Year: 2007 PMID： 17468754 DOI： 10.1038/ng2038
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330