Table 2.
Summary of findings
| Transdifferentiation potential | TGFβ responsiveness | Cytoskeleton function | |||||
|---|---|---|---|---|---|---|---|
| Immunofluorescence | Western blotting | pSMAD2/SMAD2 ratio (30 min) | Migration | Contractility | |||
| % SMA | SMA organization | SMA | SM22 | ||||
| Pathogenic Variant | Versus controls | Versus controls | Versus controls | Versus controls | Versus controls | Versus controls | Versus controls |
| ACTA2 #1 | ~ | ↓* | ↑ | ~ | ↓ | ↓ | ↓ |
| MYH11 #1 | ~ | ~ | ↑* | ↓* | ~ | ↓ | ~ |
| SMAD3 #1 | ↓ | ↓* | ↓ | ↓ | ~ | ~ | ~ |
| FBN1 #1 HI | ~ | ~ | ~ | ~ | ~ | ~ | ~ |
| FBN1 #2 HI | ~ | ~ | ~ | ~ | ~ | - | ~ |
| FBN1 #3 DN | ↓ | ~ | ↓ | ~ | ↓ | ~ | ~ |
~ = no difference; ↓ = trend of decrease; ↓* = significantly decreased; ↑ = trend of increase; ↑* = significantly increased.