Ontology highlight
ABSTRACT:
SUBMITTER: Dayal JH
PROVIDER: S-EPMC3924202 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
Dayal Jasbani H S JH Cole Clare L CL Pourreyron Celine C Watt Stephen A SA Lim Yok Zuan YZ Salas-Alanis Julio C JC Murrell Dedee F DF McGrath John A JA Stieger Bruno B Jahoda Colin C Leigh Irene M IM South Andrew P AP
Journal of cell science 20131219 Pt 4
Type VII collagen is the main component of anchoring fibrils, structures that are integral to basement membrane homeostasis in skin. Mutations in the gene encoding type VII collagen COL7A1 cause recessive dystrophic epidermolysis bullosa (RDEB) an inherited skin blistering condition complicated by frequent aggressive cutaneous squamous cell carcinoma (cSCC). OATP1B3, which is encoded by the gene SLCO1B3, is a member of the OATP (organic anion transporting polypeptide) superfamily responsible for ...[more]