Fig. 5

Comprehensive gene expression analysis of ISCLS BOECs. A Principal component analysis based on plot of PC1 and PC2 for normalized transcript counts of BOECs from ISCLS patients (n = -5, blue) and healthy controls (n = 6, orange). B Volcano plot of differentially expressed genes between control and ISCLS BOECs. Line represents threshold for genome-wide signficance (FDR < 0.1). The horizonal axis represents the positive (blue) and negative (orange) normalized enrichment score. C Gene set enrichment analysis (GSEA) of differentially expressed genes. Bar chart represents the top 20 enriched PANTHER pathway gene sets. The horizonal axis represents the positive (blue) and negative (orange) normalized enrichment score. D Gene set enrichment analysis (GSEA) of differentially expressed genes. Bar chart represents the significantly enriched (FDR < 0.1) gene ontology (GO) terms of the Cellular Component gene sets. E, F Relative Hpse (C) or Hyal1 (D) expression in BOECs determined by quantitative real-time PCR. Values are mean ± S.E.M.; ns = not significant