Table 2.
Overview of the biological processes dysregulated in cEDS, vEDS, and hEDS patients’ dermal fibroblasts emerged from transcriptome and in vitro studies.
| Insights in the Pathogenesis of cEDS, vEDS, and hEDS |
Transcriptome Findings on Patients’ Fibroblasts |
In Vitro Studies on Patients’ Fibroblasts |
||||
|---|---|---|---|---|---|---|
| Perturbed Biological Processes | cEDS | vEDS | hEDS | cEDS | vEDS | hEDS |
| ECM disorganization | + | + | + | + | + | + |
| Altered cell-matrix interactions | − | − | + | + | + | + |
| Disturbed cell-cell contacts | − | − | + | − | − | + |
| Fibroblast-to-myofibroblast transition | − | − | + | − | − | + |
| Altered inflammatory responses | + | − | + | − | na | + |
| Perturbed cell migration | + | + | − | + | + | + |
| Defective wound healing | + | + | − | + | na | na |
| Survival from anoikis | − | − | − | + | + | na |
| Collagens biosynthesis/processing | + | + | − | na | + | na |
| ER homeostasis/protein folding | + | + | − | na | + | na |
+: detected by transcriptome or in vitro studies, −: not experimentally detected by transcriptome or in vitro studies, na: not ascertained.