Dystrophic Epidermolysis Bullosa
Common Name(s)
Dystrophic Epidermolysis Bullosa
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Dystrophic Epidermolysis Bullosa" for support, advocacy or research.
How do you compare to others with this condition?
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Dystrophic Epidermolysis Bullosa" for support, advocacy or research.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Dystrophic Epidermolysis Bullosa can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dystrophic Epidermolysis Bullosa" returned 189 free, full-text research articles on human participants.
First 3 results:
Journal: An Bras Dermatol. 2017 ;92(5 Suppl 1):126-128.
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. ...
Journal: Nucleic Acids Res.. 2017 Sep;45(17):10259-10269.
Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option ...
Journal: J. Clin. Invest.. 2017 Aug;127(8):3028-3038.
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dystrophic Epidermolysis Bullosa" returned 9 free, full-text review articles on human participants.
First 3 results:
Journal: J. Invest. Dermatol.. 2016 Jun;136(6):1079-81.
Recessive dystrophic epidermolysis bullosa is a devastating blistering disease caused by mutations in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring fibrils. The anchoring fibrils in patients with recessive dystrophic epidermolysis bullosa can be ...
Journal: Transl Res. 2016 Feb;168():50-58.
Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production. Clinically, RDEB manifests as early and severe chronic cutaneous blistering, damage to internal epithelium, ...
Journal: J. Invest. Dermatol.. 2015 Jul;135(7):1705-1707.
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/COL7A1
https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia
https://ghr.nlm.nih.gov/gene/PLEC
https://ghr.nlm.nih.gov/gene/BFSP2
https://ghr.nlm.nih.gov/gene/KRT5
https://ghr.nlm.nih.gov/gene/EXPH5
https://ghr.nlm.nih.gov/gene/KLHL24
https://ghr.nlm.nih.gov/gene/COL17A1
https://ghr.nlm.nih.gov/gene/LAMC2
https://ghr.nlm.nih.gov/gene/LAMB3
https://ghr.nlm.nih.gov/gene/LAMA3
https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome
https://ghr.nlm.nih.gov/gene/KRT14
https://ghr.nlm.nih.gov/gene/ITGA6
https://ghr.nlm.nih.gov/gene/FERMT1
https://ghr.nlm.nih.gov/condition/kindler-syndrome
https://ghr.nlm.nih.gov/gene/ITGB4
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Dystrophic Epidermolysis Bullosa
Condition Summary: Recessive Dystrophic Epidermolysis Bullosa
Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

Finding the right clinical trial for Dystrophic Epidermolysis Bullosa can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.