390 miR-29 regulates type VII collagen in individuals with recessive dystrophic epidermolysis bullosa (RDEB)
نویسندگان
چکیده
منابع مشابه
Recessive dystrophic epidermolysis bullosa (RDEB) complicated by secondary hepatic amyloidosis
Fig 1. Squamous cell carcinoma identified after multiple biopsy specimens of poorly healing area over left E pidermolysis bullosa (EB) consists of a heterogeneous group of autosomal dominant or recessive disorders, characterized by epithelial fragility. In dystrophic EB, patients have a genetic defect in the gene encoding collagen VII, COL7A1. Generalized severe recessive dystrophic EB (RDEB) 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 کاملGentamicin 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 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...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2016.02.424