Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/121905
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Type: Journal article
Title: Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis
Author: Cottle, D.
Ursino, G.
Ip, S.
Jones, L.
Ditommaso, T.
Hacking, D.
Mangan, N.
Mellett, N.
Henley, K.
Sviridov, D.
Nold-Petry, C.
Nold, M.
Meikle, P.
Kile, B.
Smyth, I.
Citation: Human Molecular Genetics, 2015; 24(2):436-449
Publisher: Oxford University Press
Issue Date: 2015
ISSN: 0964-6906
1460-2083
Statement of
Responsibility: 
Denny L. Cottle, Gloria M. A. Ursino, Sally Chi Ieng Ip, Lynelle K. Jones, Tia Ditommaso ... Benjamin T. Kile ... et al.
Abstract: Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼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.
Keywords: Keratinocytes
Rights: © The Author 2014. Published by Oxford University Press. All rights reserved.
DOI: 10.1093/hmg/ddu459
Grant ID: http://purl.org/au-research/grants/nhmrc/1020281
http://purl.org/au-research/grants/nhmrc/1012353
http://purl.org/au-research/grants/nhmrc/1043845
http://purl.org/au-research/grants/nhmrc/361646
http://purl.org/au-research/grants/nhmrc/384457
http://purl.org/au-research/grants/nhmrc/461219
http://purl.org/au-research/grants/nhmrc/1016647
http://purl.org/au-research/grants/arc/FT100100620
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