Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC4617540 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Li You Y Klena Nikolai T NT Gabriel George C GC Liu Xiaoqin X Kim Andrew J AJ Lemke Kristi K Chen Yu Y Chatterjee Bishwanath B Devine William W Damerla Rama Rao RR Chang Chienfu C Yagi Hisato H San Agustin Jovenal T JT Thahir Mohamed M Anderton Shane S Lawhead Caroline C Vescovi Anita A Pratt Herbert H Morgan Judy J Haynes Leslie L Smith Cynthia L CL Eppig Janan T JT Reinholdt Laura L Francis Richard R Leatherbury Linda L Ganapathiraju Madhavi K MK Tobita Kimimasa K Pazour Gregory J GJ Lo Cecilia W CW
Nature 20150325 7553
Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live births; the incidence of CHD is up to tenfold higher in human fetuses. A genetic contribution is strongly suggested by the association of CHD with chromosome abnormalities and high recurrence risk. Here we report findings from a recessive forward genetic screen in fetal mice, showing that cilia and cilia-transduced cell signalling have important roles in the pathogenesis of CHD. The cilium is an evolut ...[more]