Gene Expression Profiling in Pachyonychia Congenita Skin

ABSTRACT: Pachyonychia congenita (PC) is a skin disorder resulting from mutations in keratin genes (KRT) 6A, KRT6B, KRT6C, KRT16, and KRT17 genes. One of the major symptoms is painful plantar keratoderma. The pathogenic sequelae resulting from the keratin mutations remain unclear. To better understand PC pathogenesis.RNA profiling was performed on biopsies taken from PC-involved and uninvolved plantar skin of seven PC (-K6a, -K6b, -K16, -K17) patients as well as from control volunteers. Protein profiling was generated from tape-stripping samples. A comparison of PC-involved skin biopsies to adjacent uninvolved plantar skin identified 112 differentially-expressed mRNAs common to patient groups harboring keratin protein (K) 6 and K16 mutations. Among these mRNAs, 25 encode structural proteins incl

ORGANISM(S): Homo sapiens

SUBMITTER: Yuan Cao 

PROVIDER: E-GEOD-63326 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress