Global genetic analysis in mice unveils central role for cilia in congenital heart disease

You Li, Nikolai T. Klena, George C. Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chienfu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour and Cecilia W. Lo ()
Additional contact information
You Li: University of Pittsburgh School of Medicine
Nikolai T. Klena: University of Pittsburgh School of Medicine
George C. Gabriel: University of Pittsburgh School of Medicine
Xiaoqin Liu: University of Pittsburgh School of Medicine
Andrew J. Kim: University of Pittsburgh School of Medicine
Kristi Lemke: University of Pittsburgh School of Medicine
Yu Chen: University of Pittsburgh School of Medicine
Bishwanath Chatterjee: University of Pittsburgh School of Medicine
William Devine: University of Pittsburgh School of Medicine
Rama Rao Damerla: University of Pittsburgh School of Medicine
Chienfu Chang: University of Pittsburgh School of Medicine
Hisato Yagi: University of Pittsburgh School of Medicine
Jovenal T. San Agustin: Program in Molecular Medicine, University of Massachusetts Medical School
Mohamed Thahir: University of Pittsburgh School of Medicine
Shane Anderton: University of Pittsburgh School of Medicine
Caroline Lawhead: University of Pittsburgh School of Medicine
Anita Vescovi: University of Pittsburgh School of Medicine
Herbert Pratt: The Jackson Laboratory
Judy Morgan: The Jackson Laboratory
Leslie Haynes: The Jackson Laboratory
Cynthia L. Smith: The Jackson Laboratory
Janan T. Eppig: The Jackson Laboratory
Laura Reinholdt: The Jackson Laboratory
Richard Francis: University of Pittsburgh School of Medicine
Linda Leatherbury: The Heart Center, Children’s National Medical Center
Madhavi K. Ganapathiraju: University of Pittsburgh School of Medicine
Kimimasa Tobita: University of Pittsburgh School of Medicine
Gregory J. Pazour: Program in Molecular Medicine, University of Massachusetts Medical School
Cecilia W. Lo: University of Pittsburgh School of Medicine

Nature, 2015, vol. 521, issue 7553, 520-524

Abstract: A forward genetic screen in fetal mice to identify genes involved in congenital heart disease (CHD) reveals that a large proportion of genes associated with CHD are related to cilia and cilia-transduced cell signalling, with potential implications for the human disease.

Date: 2015
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DOI: 10.1038/nature14269

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