Ontology highlight
ABSTRACT:
SUBMITTER: Cottle DL
PROVIDER: S-EPMC7691394 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Cottle Denny L DL Ursino Gloria M A GMA Jones Lynelle K LK Tham Ming Shen MS Zylberberg Allara K AK Smyth Ian M IM
Cell reports. Medicine 20201117 8
Mutations in the lipid transport protein ABCA12 cause the life-threatening skin condition harlequin ichthyosis (HI), which is characterized by the loss of skin barrier function, inflammation, and dehydration. Inflammatory responses in HI increase disease severity by impairing keratinocyte differentiation, suggesting amelioration of this phenotype as a possible therapy for the condition. Existing treatments for HI are based around the use of retinoids, but their value in treating patients during ...[more]