Original paper

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

Volume: 130, Issue: 9, Pages: 4798 - 4810
Published: Aug 10, 2020
Abstract
The biology of harlequin ichthyosis (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly understood, and to date, no satisfactory treatment has been developed. We sought to investigate pathomechanisms of HI that could lead to the identification of new treatments for improving patients’ quality of life. In this study, RNA-Seq and functional assays were performed to define the effects of loss of...
Paper Details
Title
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
Published Date
Aug 10, 2020
Volume
130
Issue
9
Pages
4798 - 4810
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