Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

2003 ◽  
Vol 63 (3) ◽  
pp. 224-227 ◽  
Author(s):  
HY Kroes ◽  
G Pals ◽  
AJ Van Essen
2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Mohammed M. Al-Qattan ◽  
Mervat M. Abd-Elwahed ◽  
Khalid Hawary ◽  
Maha M. Arafah ◽  
Medhat K. Shier

Generally speaking, the excessive expression of myofibroblasts is associated with excessive collagen production. One exception is seen in patients and animal models of Ehlers-Danlos syndrome type IV in which theCOL3A1gene mutation results in reduced collagen III but with concurrent increased myofibroblast expression. This paradox has not been examined with the use of external drugs/modalities to prevent hypertrophic scars. In this paper, we injected the rabbit ear wound model of hypertrophic scarring with two doses of a protein called nAG, which is known to reduce collagen expression and to suppress hypertrophic scarring in that animal model. The higher nAG dose was associated with significantly less collagen III expression and concurrent higher degree of myofibroblast expression. We concluded that collagen III content of the extracellular matrix may have a direct or an indirect effect on myofibroblast differentiation. However, further research is required to investigate the pathogenesis of this paradoxical phenomenon.


1991 ◽  
Vol 266 (8) ◽  
pp. 5244-5248
Author(s):  
H Vissing ◽  
M D'Alessio ◽  
B Lee ◽  
F Ramirez ◽  
P H Byers ◽  
...  

1995 ◽  
Vol 38 (6) ◽  
pp. 960-964 ◽  
Author(s):  
Kathryn N. North ◽  
David A. H. Whiteman ◽  
Melanie G. Pepin ◽  
Peter H. Byers

2007 ◽  
Vol 22 (4) ◽  
pp. 698 ◽  
Author(s):  
Jeong Hoon Yang ◽  
Seung-Tae Lee ◽  
Jee-Ah Kim ◽  
Sung Hae Kim ◽  
Shin-Yi Jang ◽  
...  

2009 ◽  
Vol 11 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Alexandru Barboi ◽  
Cedric Dennis ◽  
Michael Timins ◽  
Wendy Peltier ◽  
Craig M Klotz ◽  
...  

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