Kaori Sakai

TL;DR: It is concluded that ABCA 12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI.

TL;DR: It is shown that human autoimmune disease can be reproduced using genetically engineered model mice and injected human BP autoantibody into Col17-knockout mice rescued by the human ortholog, resulting in BP-like skin lesions and a human disease phenotype.

TL;DR: The data indicate that FLG mutations in Japan are unique from those found in European-origin populations, and may predict a more severe and persistent form of atopy.

TL;DR: It is found that more than 20% of patients in the Japanese AD case series carry FLG mutations, and there is significant statistical association between the four mutations and AD, which emphasize that skin-barrier impairment due to reduced filaggrin expression plays an important role in the pathogenesis of AD.

TL;DR: It is concluded that skipping of targeted exons using mutation-specific AON may show potential for future gene therapy for DEB patients, as it induced effective skipping of normal exon 70 containing 16 amino acids.