Article
Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
Human molecular genetics - 15 Jan 2015
Cottle Denny L, Ursino Gloria M A, Ip Sally Chi Ieng, Jones Lynelle K, Ditommaso Tia, Hacking Douglas F, Mangan Niamh E, Mellett Natalie A, Henley Katya J, Sviridov Dmitri, Nold-Petry Claudia A, Nold Marcel F, Meikle Peter J, Kile Benjamin T, Smyth Ian M
Abstract excerpt
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...
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