Linked Life Data

17040578

Source:http://linkedlifedata.com/resource/pubmed/id/17040578

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2006-10-16
pubmed:abstractText
Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes. Mutations in at least 14 distinct genes encoding molecular components of the epidermis or the dermal-epidermal junction (DEJ) can cause blistering skin diseases that differ by clinical presentation and severity of the symptoms. Despite great advances in discerning the genetic basis of this group of diseases, the molecular pathways leading to symptoms are not yet fully understood. Unravelling these pathways by molecular analysis of the structure and in vitro assessment of functional properties of the human proteins involved, combined with genetic models in lower organisms, should pave the way for specific cures for inherited skin fragility.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1462-3994
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1-21
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Molecular basis of inherited skin-blistering disorders, and therapeutic implications.
pubmed:affiliation
Center for Biochemistry, Medical Faculty, and Center for Molecular Medicine Cologne, University of Cologne, Germany. aumailley@uni-koeln.de
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't