ArticleThe Journal of investigative dermatology2014
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Article in The Journal of investigative dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 53 citations in OpenAlex.
- Gene Therapy for Dystrophic Epidermolysis Bullosa.Experimental dermatology · 2026Review
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- The Role of Fibroblasts in Dystrophic Epidermolysis Bullosa Pathogenesis and Current Treatment Approaches.JID innovations : skin science from molecules to population health · 2025Review
- Article
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Revertant Mosaicism in Epidermolysis Bullosa.Biomedicines · 2022Review
- Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.International journal of general medicine · 2022Review
- Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2021Article
- Investigational Treatments for Epidermolysis Bullosa.American journal of clinical dermatology · 2021Review
- Congenital absence of the skin secondary to the self-improving subtype of dystrophic epidermolysis bullosa with recurrent lesions throughout early childhood.JAAD case reports · 2021Article
- Epidermolysis bullosa.Nature reviews. Disease primers · 2020Review
- POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.Molecular diagnosis & therapy · 2020Review
- A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.PloS one · 2018Article
- RNA-based therapies for genodermatoses.Experimental dermatology · 2017Review
- Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.Translational research : the journal of laboratory and clinical medicine · 2016Review
- Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.The Journal of investigative dermatology · 2016Review
- Somatic mosaicism: on the road to cancer.Nature reviews. Cancer · 2016Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Revertant mosaicism has been reported in several inherited diseases, including the genetic skin fragility disorder epidermolysis bullosa (EB). Here, we describe the largest cohort of seven patients with revertant mosaicism and dystrophic EB (DEB), associated with mutations in the COL7A1 gene, and determine the underlying molecular mechanisms. We show that revertant mosaicism occurs both in autosomal dominantly and recessively inherited DEB. We found that null mutations resulting in complete loss of collagen VII and severe disease, as well as missense or splice-site mutations associated with some preserved collagen VII function and a milder phenotype, were corrected by revertant mosaicism. The mutation, subtype, and severity of the disease are thus not decisive for the presence of revertant mosaicism. Although collagen VII is synthesized and secreted by both keratinocytes and fibroblasts, evidence for reversion was only found in keratinocytes. The reversion mechanisms included back mutations/mitotic recombinations in 70% of the cases and second-site mutations affecting splicing in 30%. We conclude that revertant mosaicism is more common than previously assumed in patients with DEB, and our findings will have implications for future therapeutic strategies using the patient's naturally corrected cells as a source for cell-based therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.