Sentences with phrase «first gene defect»
Thus began a seventeen - year odyssey that led her to discover the first gene defect that predisposes to breast cancer.
http://www.laskerfoundation.org/ Not exact matches
«Based on our findings, we think mice with these ASD - associated gene mutations have a major defect in the «volume switch» in their peripheral sensory neurons,» says first author Lauren Orefice, a postdoctoral fellow in Ginty's lab.
The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine.
However, animals that had mutations with Pcdha9, but not Sap130, can display defects in the aorta, but with normal - sized left ventricles, suggesting interaction between the two genes is needed to cause all the features of HLHS,» said Xiaoqin Liu, M.D., Ph.D., the first author of the new study and a research instructor in Lo's lab.
Although mutations had been identified in other genes important for the recycling of bile acids, this is the first report in humans of disease - associated defects in this gene, called Organic Solute Transporter - beta (SLC51B).
«Investigating their genetic mutation revealed a whole network of genes that went awry, first causing septal defects and then the heart muscle dysfunction.»