期刊
HUMAN MOLECULAR GENETICS
卷 24, 期 2, 页码 436-449出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu459
关键词
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资金
- National Health and Medical Research Council (Australia) [1020281, 1012353, 1043845]
- Independent Research Institutes Infrastructure Support Scheme Grant [361646]
- Victorian Government's Operational Infrastructure Support Program
- Australian Post-graduate Award
- Monash International Post-graduate Research Scholarship
- Monash Graduate Scholarship
- Australian Research Council Australian Research Fellowship
- Sylvia and Charles Viertel Foundation
- Monash University
- National Health and Medical Research Council [384457]
- Australian Research Council Future Fellowship [FT100100620]
- [461219]
- [1016647]
- Australian Research Council [FT100100620] Funding Source: Australian Research Council
Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in similar to 50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse models. We observed a pro-inflammatory signature which was characterized by chemokine upregulation in embryonic skin which is distinct from that seen in other types of ichthyosis. Inflammation also persisted in grafted HI skin. To examine the contribution of inflammation to disease development, we overexpressed interleukin-37b to globally suppress fetal inflammation, observing considerable improvements in keratinocyte differentiation. These studies highlight inflammation as an unexpected contributor to HI disease development in utero, and suggest that inhibiting inflammation may reduce disease severity.
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