Table 7.
Organization of FN and COLLs and their canonical integrin receptors in control, EDS, and other HCTDs dermal fibroblasts.
| ECM Components and Integrins # | Control Fibroblasts | cEDS COL5A1 COL5A2 |
vEDS COL3A1 |
hEDS HSD Unknown |
kEDS FKBP14 |
kEDS u PLOD1 |
dEDS u ADAMTS2 |
aEDS u COL1A2 ex6 |
BCS PRDM5 ZNF469 |
mcEDS CSHT14 |
spEDS B3GALT6 |
LDS u TGFBR1 |
MFS u FBN1 |
OI u COL1A1 COL1A2 |
ATS SLC2A10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FN | ++ | + | + | + | + | + | + | + | + | + | ++ | ++ | ++ | ++ | + |
| α5β1 | ** | */- | */- | */- | - | - | - | - | */- | - | ** | ** | ** | ** | *,u |
| αvβ3 | - | ** | ** | ** | **,u | ** | ** | ** | **,u | **,u | -,u | - | - | - | ** |
| COLLI | + | +/- | - | - | - | - | - | - | - | - | + | + | + | - | - |
| COLLIII | ++ | - | - | - | - | - | - | - | - | - | - | - | + | - | - |
| COLLV | ++ | - | ++/+ | - | ++ | - | - | - | + | + | + | ++ | ++ | +/- | +/- |
| α2β1 | ** | - | - | - | - | - | - | - | - | - | - | na | * | - | -,u |
#: detected by immunofluorescence analyses, ++: abundant and fibrillar ECM, +: rare ECM fibrils, **: abundant patches in plasma membrane, *: reduced patches in plasma membrane, -: negligible amounts/absent, na: not analyzed, u: unpublished. The genes underlying the different HCTDs are reported in italics.