Article
A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice.
Human molecular genetics - 1 Mar 2005
Herron Bruce J, Rao Cherie, Liu Shanming, Laprade Lisa, Richardson James A, Olivieri Emily, Semsarian Chris, Millar Sarah E, Stubbs Lisa, Beier David R
Abstract excerpt
We have identified waved 3 (wa3), a novel recessive mutation that causes abnormalities of the heart and skin. The cardiac defect results in a severe and rapidly progressive dilated cardiomyopathy. We identified the gene mutated in these mice, which we call NFkB interacting protein1 (Nkip1), using positional cloning. Nkip1 is expressed in skin, heart and vascular endothelium and shares homology with a small family...
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