The Khokha lab is interested in the genes and developmental mechanisms that lead to birth defects (congenital malformations). Our approach is novel gene discovery in congenital malformation patients followed by developmental mechanism discovery in Xenopus.
Griffin et al. demonstrate that the candidate congenital heart disease gene, RAPGEF5, regulates nuclear translocation of β-catenin independently of the importin β1/Ran-mediated transport system. They propose that RAPGEF5 and its target GTPases define a parallel nuclear transport pathway required for Wnt signaling activity in development and disease.
Researchers hope to create a map of
our DNA, which is what tells the human body how to grow,
develop, and function. This map may help explain the cause
of some medical conditions. Some of these discoveries we
hope will guide us towards giving our children the best
medical care possible.
Access To Lab Techniques
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