ArticleThe Journal of investigative dermatology2014
Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive 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 32 papers.
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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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Who cites it
32 citing papers in PubMed, 85 citations in OpenAlex.
- Gene Therapy for Dystrophic Epidermolysis Bullosa.Experimental dermatology · 2026Review
- Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa.The Journal of investigative dermatology · 2024Article
- Current Status of Biomedical Products for Gene and Cell Therapy of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Revertant Mosaicism in Epidermolysis Bullosa.Biomedicines · 2022Review
- Investigational Treatments for Epidermolysis Bullosa.American journal of clinical dermatology · 2021Review
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs.The Journal of investigative dermatology · 2020Article
- Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2019Article
- Epidermolysis bullosa: Advances in research and treatment.Experimental dermatology · 2019Review
- Reprogramming of Keratinocytes as Donor or Target Cells Holds Great Promise for Cell Therapy and Regenerative Medicine.Stem cell reviews and reports · 2019Review
- A 3D in vitro model of the dermoepidermal junction amenable to mechanical testing.Journal of biomedical materials research. Part A · 2018Article
- Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.Molecular therapy. Nucleic acids · 2018Article
- Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa.Pediatric research · 2018Review
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.Intractable & rare diseases research · 2017Review
- hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicine.Journal of cellular and molecular medicine · 2016Review
- 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
- Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.Stem cell reports · 2015Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Spontaneous reversion of disease-causing mutations has been observed in some genetic disorders. In our clinical observations of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genodermatosis caused by loss-of-function mutations in COL7A1 that results in a deficit of type VII collagen (C7), we have observed patches of healthy-appearing skin on some individuals. When biopsied, this skin revealed somatic mosaicism resulting in the self-correction of C7 deficiency. We believe this source of cells could represent an opportunity for translational 'natural' gene therapy. We show that revertant RDEB keratinocytes expressing functional C7 can be reprogrammed into induced pluripotent stem cells (iPSCs) and that self-corrected RDEB iPSCs can be induced to differentiate into either epidermal or hematopoietic cell populations. Our results give proof-of-principle that an inexhaustible supply of functional patient-specific revertant cells can be obtained--potentially relevant to local wound therapy and systemic hematopoietic cell transplantation. This technology may also avoid some of the major limitations of other cell therapy strategies, e.g., immune rejection and insertional mutagenesis, which are associated with viral- and nonviral-mediated gene therapy. We believe this approach should be the starting point for autologous cellular therapies using 'natural' gene therapy in RDEB and other diseases.
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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.