A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice.

@article{Herron2005AMI,
  title={A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice.},
  author={Bruce J Herron and Cherie Rao and Shanming Liu and Lisa Laprade and J. A. Richardson and Emily R Olivieri and Chris Semsarian and Sarah E. Millar and Lisa Stubbs and David R Beier},
  journal={Human molecular genetics},
  year={2005},
  volume={14 5},
  pages={
          667-77
        }
}
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 of proteins that play a role in the regulation of transcription factors. A C… CONTINUE READING
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