ArticleMolecular therapy : the journal of the American Society of Gene Therapy2017
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed, 101 citations in OpenAlex.
- Gene Therapy for Dystrophic Epidermolysis Bullosa.Experimental dermatology · 2026Review
- Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies.Drugs · 2026Review
- Recombinant humanized type VII collagen for skin repair and regeneration: prospects for reconstructing the dermal-epidermal junction.Frontiers in medicine · 2026Review
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Restoration of Hair Luster via Novel Biomarker COL7A1 by Minoxidil, Caffeine, and Biotin.Current issues in molecular biology · 2025Article
- Progress in skin gene therapy: From the inside and out.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- A bioinformatic analysis of gene editing off-target loci altered by common polymorphisms, using 'PopOff'.Journal of the Royal Society of New Zealand · 2025Article
- Current Status of Biomedical Products for Gene and Cell Therapy of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Review
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis.Dermatology and therapy · 2024Review
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.International journal of molecular sciences · 2024Review
- Skin Development and Disease: A Molecular Perspective.Current issues in molecular biology · 2024Review
- Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Article
- Article
- A Review of CRISPR-Based Advances in Dermatological Diseases.Molecular diagnosis & therapy · 2023Review
- Cytosine Deaminase Base Editing to RestoreJID innovations : skin science from molecules to population health · 2023Article
- Article
- Challenges of Gene Editing Therapies for Genodermatoses.International journal of molecular sciences · 2023Review
- Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes. Transplantation of skin equivalents grown from corrected keratinocytes onto immunodeficient mice showed phenotypic reversion with normal localization of type VII collagen at the basement membrane zone, compared with uncorrected keratinocytes, as well as fully stratified and differentiated skin layers without indication of blister development. Next-generation sequencing revealed on-target efficiency of up to 30%, whereas nuclease-mediated off-target site modifications at predicted genomic loci were not detected. These data demonstrate the potential of the CRISPR/Cas9 technology as a possible ex vivo treatment option for genetic skin diseases in the future.
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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.