13023_2015_360_MOESM1_ESM.docx (5.08 MB)
Additional file 1: Table S1. of Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
journal contribution
posted on 2015-11-11, 05:00 authored by Louise Porter, Roberto Gallego-Pinazo, Catherine Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes Manson, Graeme BlackOcular PRDM5 expression and embryonic origin of ocular structure. Figure S1. Elastin staining in Bruch’s membrane in PRDM5-associated disease. Figure S2. The 5 layers of Bruch’s membrane (modified from Booji et al, 2010) [15]. Figure S3. qPCR assessment of target gene ITGA8 demonstrating fold change in mRNA expression in dermal fibroblasts isolated from BCS patients with different mutations: PRDM5 p.Arg590* (P3) and PRDM5 internal deletion of exons 9 to 14 (P1), versus sex and age-matched control fibroblast cell lines in the logarithmic scale (Log2RQ). (DOCX 5201 kb)
