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Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

Known as: DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT, DDEB, Epidermolysis Bullosa Dystrophica, Autosomal Dominant 
 
National Institutes of Health

Related topics

Related topics

9 relations
Atrophic scarsAutosomal dominant inheritanceCOL7A1, GLY2034ARGCockayne-Touraine Disease
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Broader (1)

Epidermolysis Bullosa Dystrophica

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Neuroprotection by cyclodextrin in cell and mouse models of Alzheimer disease
To be added 
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Highly Cited
2011
Highly Cited
2011
Abnormal accumulation of autophagic vesicles correlates with axonal and synaptic pathology in young Alzheimer’s mice hippocampus
Dystrophic neurites associated with amyloid plaques precede neuronal death and manifest early in Alzheimer’s disease (AD). In… Expand
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2011
2011
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) (OMIM 604129) represents a distinct variant within the DEB clinical… Expand
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Highly Cited
2010
Highly Cited
2010
Altered distribution of RhoA in Alzheimer's disease and AbetaPP overexpressing mice.
RhoGTPases control cytoskeleton dynamics thereby modulating synaptic plasticity. Because Alzheimer's disease (AD) is… Expand
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Review
2009
Review
2009
Proteomic profiling of x-linked muscular dystrophy
Progressive x-linked muscular dystrophy represents the most commonly inherited neuromuscular disorder in humans. Although the… Expand
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2006
2006
Passive mechanical properties of maturing extensor digitorum longus are not affected by lack of dystrophin.
Mechanical weakness of skeletal muscle is thought to contribute to onset and early progression of Duchenne muscular dystrophy… Expand
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Highly Cited
2003
Highly Cited
2003
A biooptical model of irradiance distribution and photosynthesis in seagrass canopies
Although extremely vulnerable to coastal eutrophication, seagrasses represent important structuring elements and sources of… Expand
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Highly Cited
2002
Highly Cited
2002
The clinical spectrum of dystrophic epidermolysis bullosa.
BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type… Expand
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Highly Cited
2002
Highly Cited
2002
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Dystrophic epidermolysis bullosa (DEB) is a rare skin disorder that is clinically heterogeneous and is transmitted either in… Expand
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1996
1996
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution…
We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive… Expand
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