نتایج جستجو برای: type vii collagen
تعداد نتایج: 1402056 فیلتر نتایج به سال:
Recessive dystrophic epidermolysis bullosa (RDEB) is a cutaneous genetic disease, which characterized by the loss of functional type VII collagen. The epidermis becomes extremely fragile without collagen, and patients suffer from repetitive blistering scar formation. RDEB caused mutations in COL7A1 gene (coding collagen), most have two different on each gene. Interestingly, it known that part s...
Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen owing to mutations in the gene COL7A1 and suffer severe blistering and chronic wounds that ultimately lead to infection and development of lethal squamous cell carcinoma. The discovery of induced pluripotent stem cells (iPSCs) and the ability to edit the genome bring the possibility to provide defi...
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into three major categories on the basis of the level of tissue separation within the dermal-epidermal basement membrane zone. In the most severe, dystrophic (scarring) forms of EB, blisters form below the cutaneous basement membrane at the level of the anchoring fibrils, which are composed of type VII c...
The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and one secondary to anchoring fibril dysfunction - type VII collagen (dystrophic epidermolysis bullosa). In pemphigus foliaceus, acantholytic pheno...
Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized clinical heterogeneity. To date, scientific findings allow to evaluate correlations between severity of manifestations and genetic defects underlying development disease. A systematic literature search was performed using PubMed RSCI, keywords including dystrophic bullosa, collagen VII, COL7A1....
Title Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen : case report and review of the literature Author(s) Mayuzumi, M.; Akiyama, M.; Nishie, W.; Ukae, S.; Abe, M.; Sawamura, D.; Hashimoto, T.; Shimizu, H. Citation British Journal of Dermatology, 155(5): 1048-1052 Issue Date 2006-11 Doc URL http://hdl.handle.net/2115/...
KEYWORDS Epidermolysis bullosa acquisita; Autoimmune subepidermal bullous disease Abstract Background: Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies to type VII collagen. The clinical presentation is variable, with skin and mucosal lesions that can cause significant dysfunction. Different treatment options exist, but the results ...
Background: Alteration in polymorphism of tissue collagens has been reported in association with some genetic and metabolic disorders. These alterations can be estimated quantitatively by measuring alpha-chain monomers derived from the polymeric form of collagens following treatment with sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). We studied the rate of placental colla...
Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Thera...
PURPOSE To determine the anatomic cleavage plane of the corneal epithelial adhesion complex in eyes with traumatic recurrent corneal erosion (RCE). METHODS A loosened sheet of corneal epithelium was obtained from corneal epithelial wounds in eight patients with traumatic RCE, before each patient underwent phototherapeutic keratectomy. Three control groups were employed in the study, including...
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