A Mutation-Independent Therapeutic Strategy for Dominant Dystrophic Epidermolysis Bullosa
نویسندگان
چکیده
منابع مشابه
A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.
Julia Spoendlin, Johannes J. Voegel, Susan S. Jick and Christoph R. Meier Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland; Hospital Pharmacy, University Hospital Basel, Basel, Switzerland; Galderma Research & Development, Sophia Antipolis, France and Boston Collaborative Drug Surveill...
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Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...
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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. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by...
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Dystrophic epidermolysis bullosa (DEB) is a severe skin fragility disorder associated with trauma-induced blistering, progressive soft tissue scarring, and increased risk of skin cancer. DEB is caused by mutations in the COL7A1 gene which result in reduced, truncated, or absent type VII collagen, and anchoring fibrils at the dermal-epidermal junction (DEJ). Because no topical wound-healing agen...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2013
ISSN: 0022-202X
DOI: 10.1038/jid.2013.241