Gene expression profiling in pachyonychia congenita skin

YA Cao, RP Hickerson, BL Seegmiller, D Grapov… - Journal of …, 2015 - Elsevier
Background Pachyonychia congenita (PC) is a skin disorder resulting from mutations in
keratin (K) proteins including K6a, K6b, K16, and K17. One of the major symptoms is painful
plantar keratoderma. The pathogenic sequelae resulting from the keratin mutations remain
unclear. Objective To better understand PC pathogenesis. Methods RNA profiling was
performed on biopsies taken from PC-involved and uninvolved plantar skin of seven
genotyped PC patients (two K6a, one K6b, three K16, and one K17) as well as from control …