132 Identification of novel pathways linked to the pathogenesis of Recessive X-Linked Ichthyosis

Recessive X-Linked Ichthyosis (RXLI) results from a deficiency of steroid sulfatase (STS) and is characterized by an accumulation of cholesterol sulfate in the upper layers of the epidermis, resulting in a scaling phenotype and barrier dysfunction. To further understand the pathomechanisms of RXLI, we have generated an RNA-Seq data set of the transcriptome of keratinocytes with siRNA-induced loss of STS. To validate these data, we generated a 3D XLRI model using 2 telomerase-immortalized keratinocyte cell lines with stable knockdown of STS using different lentiviral shRNA clones.

Source: Journal of Investigative Dermatology - August 16, 2016 Category: Dermatology Authors: F. McGeoghan, M. Menon, P. Dewan, M. Caley, M. Donaldson, E.A. O ’Toole Tags: Epidermal Structure and Function Source Type: research