Epidermolysis Bullosa Simplex

Known as: Bullosa Simplices, Epidermolysis, Epidermolysis Bullosa Simplex [Disease/Finding], Epidermolysis Bullosa Simplices 
A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1952-2017
0102019522016

Papers overview

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2012
2012
Epidermolysis bullosa is a rare disorder with several variants. Included in this disorder is epidermolysis bullosa with mottled… (More)
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2010
2010
The major challenge to a successful gene therapy of autosomal dominant genetic diseases is a highly efficient and specific knock… (More)
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2001
2001
The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blistering disease inherited in an autosomal… (More)
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2000
2000
As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of… (More)
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Highly Cited
1996
Highly Cited
1996
Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blistering of the skin… (More)
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Highly Cited
1996
Highly Cited
1996
We report that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive… (More)
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1996
1996
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical… (More)
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1993
1993
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical… (More)
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Highly Cited
1991
Highly Cited
1991
Previously we demonstrated that transgenic mice expressing mutant basal epidermal keratin genes exhibited a phenotype resembling… (More)
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Highly Cited
1991
Highly Cited
1991
Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family… (More)
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