Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous disorders that are caused by mutations in the type VII collagen gene and for which ex vivo gene therapy has been considered. To develop a simpler approach for treating DEB, we evaluated the feasibility of protein-based therapy by intradermally injecting human recombinant type VII collagen into mouse skin and a DEB human skin equivalent transplanted onto mice. The injected collagen localized to the basement membrane zone of both types of tissues, was organized into human anchoring fibril structures and reversed the features of DEB disease in the DEB skin equivalent.
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Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa.
Nat Commun
January 2025
National Institute of Health and Medical Research (INSERM) UMRS-976 HIPI, Paris Cité University, Saint-Louis Hospital, 75010, Paris, France.
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease caused by COL7A1 pathogenic variants. Although underscored by animal studies, the endotypes of human RDEB are poorly understood.
View Article and Find Full Text PDFReporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).
Ann Indian Acad Neurol
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Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Comparative evaluation of silver diamine fluoride, glass ionomer cement, and calcium hydroxide for indirect pulp therapy in young permanent molars: A randomized controlled trial.
J Indian Soc Pedod Prev Dent
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Department of Paediatric and Preventive Dentistry, T.P.C.T's Terna Dental College, Navi Mumbai, Maharashtra, India.
Objectives: Comparative evaluation of indirect pulp therapy (IPT) with silver diamine fluoride (SDF), Type VII glass ionomer cement (GIC), and calcium hydroxide (Ca(OH)2) in young permanent molars.
Materials And Methods: This was randomized controlled trial, in which 45 children with 60 young permanent first molars were allocated as; Group A: IPT with SDF, Group B: Type VII GIC, and Group C: Ca(OH)2. Clinical and radiographic evaluation and comparison was done at baseline, 3, 6, 12 months.
Effect of Adipose Stem Cells Injection on Type VII and VIII Collagen Expression of Wistar Rat's Gingiva.
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Department of Periodontics, Faculty of Dental Medicine, Airlangga University, Surabaya, Indonesia, Phone: +082146474590, e-mail:
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Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Br J Dermatol
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Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
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