Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

Abstract

Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC… (More)
DOI: 10.1016/j.devcel.2016.08.002

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Cite this paper

@article{Viso2016CongenitalHD, title={Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.}, author={Florencia del Viso and Fang Huang and Jordan R. Myers and Madeleine C. Chalfant and Yongdeng Zhang and Nooreen Reza and Joerg Bewersdorf and C Patrick Lusk and Mustafa K. Khokha}, journal={Developmental cell}, year={2016}, volume={38 5}, pages={478-92} }