期刊
NATURE GENETICS
卷 39, 期 6, 页码 727-729出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2038
关键词
-
资金
- Medical Research Council [G0601347] Funding Source: researchfish
- MRC [G0601347] Funding Source: UKRI
- Medical Research Council [G0801843, G0601347] Funding Source: Medline
- NIGMS NIH HHS [GM074746] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据