Fig 2: Cell-specific changes in the TGF-β pathway in MFS compared to control. (A–D) Cell-specific TGF-β pathway expression including (A) TGF-β ligand genes, (B) TGF-β receptor genes, (C) SMAD genes, and (D) target genes. * Clusters with significant differential expression (adjusted p < 0.05). Data are presented as log2FC in MFS compared to control. (E) Immunofluorescence shows decreased TGF-β receptor II levels in SMCs in MFS, supporting our single-cell data. (F) Immunofluorescence quantification of co-localized TGF-β receptor II and SM22α shows decreased TGF-β receptor II in SMCs in MFS, consistent with our single-cell data. Quantification was performed using unaltered images of 3 separate sections of slides from 3 controls and 3 patients with MFS. (G) Co-localization of TGFBR2 and SM22α on confocal microscopy. (H) Representative immunofluorescence images show decreased phosphorylated SMAD2 (Ser465/Ser467, p-SMAD2) and total SMAD2 (SMAD2) in SMCs in MFS. (I), Quantification of co-localized p-SMAD with SM22α and total SMAD2 with SM22α. Quantification was performed using unaltered images of 3 separate sections of slides from 3 controls and 3 patients with MFS. EC, endothelial cells; MSC, mesenchymal stem cells; SMC, smooth muscle cells.