3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cytokine Signaling Pathways and Interactions
• Share to Mast cells and histamine
• Share to melanin and skin pigmentation