Article
Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
International journal of molecular sciences - 11 Feb 2021
Beilin Arkadii K, Evtushenko Nadezhda A, Lukyanov Daniil K, Murashkin Nikolay N, Ambarchian Eduard T, Pushkov Alexander A, Savostyanov Kirill V, Fisenko Andrey P, Rogovaya Olga S, Vasiliev Andrey V, Vorotelyak Ekaterina A, Gurskaya Nadya G
Abstract excerpt
The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, including chronic inflammation and profibrotic changes in the skin. However, the correlations between the specific mutations in COL7A1 and their phenotypic output remain...
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