Article
Global genetic analysis in mice unveils central role for cilia in congenital heart disease.
Nature - 28 May 2015
Li You, Klena Nikolai T, Gabriel George C, Liu Xiaoqin, Kim Andrew J, Lemke Kristi, Chen Yu, Chatterjee Bishwanath, Devine William, Damerla Rama Rao, Chang Chienfu, Yagi Hisato, San Agustin Jovenal T, Thahir Mohamed, Anderton Shane, Lawhead Caroline, Vescovi Anita, Pratt Herbert, Morgan Judy, Haynes Leslie, Smith Cynthia L, Eppig Janan T, Reinholdt Laura, Francis Richard, Leatherbury Linda, Ganapathiraju Madhavi K, Tobita Kimimasa, Pazour Gregory J, Lo Cecilia W
Abstract excerpt
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...
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