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Article

Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis

4 Feb 2019

Abstract excerpt

Significance Genetic copy number variations (CNVs) are the most common mechanism of structural genetic diversity, playing a key role in human health and common diseases. However, because of a lack of relevant experimental models, little is known about how rare CNVs contribute to the risk of complex phenotypes. We show that transgenic mice with high copy number of DEFA1/DEFA3 [encoding human neutrophil peptides...

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PMID: 30718392
DOI: 10.1073/pnas.1812947116

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