Abstract
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy
Highlights
Heterozygous missense variants in gene CARD14 were detected in 2 of 15 patients (Figure 2c and d)
Quantitative real-time reverse transcriptionePCR showed a significant increase in IL-12A and IL-23A in cultured patient KCs and SVK14 cells transfected with the mutant CARD14 construct compared to identicallyehandled KCs from grouped normal controls (Figure 2g) and SVK14 cells transfected with the wild-type CARD14 construct (Figure 2h)
A significant increase in NF-kB p65 subunit activity was shown by ELISA in nuclear extracts from SVK14 cells transfected with the mutant CARD14 construct (Figure 2l) but not in patient KC nuclear extracts (Figure 2k) (Abcam, Cambridge, United Kingdom), potentially owing to the less physiological model of overexpression in the cell line model
Summary
Heterozygous missense variants in gene CARD14 were detected in 2 of 15 patients (Figure 2c and d). The patient 2 variant was modeled in a KC cell line (SVK14) that was transfected (Lipofectamine 2000) with CARD14 wild-type and mutant (c.277A > G) pcDNA3.1-HA constructs (Figure 2o).
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