Article
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
Trends in genetics : TIG - 1 Oct 2015
Basson M Albert, van Ravenswaaij-Arts Conny
Abstract excerpt
CHARGE syndrome is a rare genetic syndrome characterised by a unique combination of multiple organ anomalies. Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified as the cause of CHARGE syndrome. Here, we review recent work aimed at understanding the mechanism of CHD7 function in normal and...
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