Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients
نویسندگان
چکیده
منابع مشابه
Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration i...
متن کاملDe Novo Anti-Type VII Collagen Antibodies in Patients With Recessive Dystrophic Epidermolysis Bullosa
The two main layers of human skin are held together by structures at the dermal-epidermal junction (DEJ) called anchoring fibrils (AFs). Without properly functioning AFs, the adherence between the epidermis and dermis is compromised. Clinically, this translates into skin fragility and skin bullae. AFs are composed of type VII collagen (C7) that has a central triple helical domain (TH) flanked b...
متن کاملUse of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of locus heterogeneity. Several COL7A1 mutations have now been identified in rece...
متن کاملGenetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.
Generalized mutilating recessive dystrophic epidermolysis bullosa (RDEB) is characterized by extreme skin fragility owing to loss of dermal-epidermal adherence. Immunohistochemical studies have implicated type VII collagen, the major component of anchoring fibrils, in the etiology of RDEB. In this study, we demonstrate genetic linkage of the type VII collagen gene and the generalized mutilating...
متن کاملThree Brothers with Recessive Dystrophic Epidermolysis Bullosa
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...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2017
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci92707