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    Glossary Junctional Epidermolysis Bullosa

    genetic disorder causing fragile skin that blisters easily

    Junctional Epidermolysis Bullosa (JEB) is a rare genetic disorder characterized by fragile skin that blisters easily, often in response to minor trauma or friction. This condition is caused by mutations in genes responsible for producing proteins that help anchor the outer layer of the skin (epidermis) to the underlying layer (dermis), leading to separation and blister formation at the junction between these layers.

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    1. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    2. P‐35 
Nonlethal junctional epidermolysis bullosa in a dog Veterinary Dermatology · 2004 · 2 citations
    3. 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes Journal of Investigative Dermatology · 2025
    4. Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report Frontiers in genetics · 2022
    5. Junctional Epidermolysis Bullosa, Generalized Intermediate Type 2015
    6. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa Journal of the American Academy of Dermatology · 2005 · 5 citations
    7. Case of non-Herlitz junctional epidermolysis bullosa with<i>COL17A1</i>mutation The Journal of Dermatology · 2015 · 1 citations
    8. Localized variant of junctional epidermolysis bullosa with R795X mutation Dermatology Reports · 2025
    9. Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa The American Journal of Human Genetics · 1997 · 80 citations
    10. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    11. Epidermolysis bullosa in animals: a review Veterinary Dermatology · 2014 · 33 citations
    12. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    13. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    14. Stem Cell Therapies for Epidermolysis Bullosa Treatment Bioengineering · 2023 · 22 citations
    15. Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells Journal of Dermatological Science · 2024 · 1 citations
    16. Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids Stem cell reports · 2022 · 14 citations
    17. Advances in skin grafting and treatment of cutaneous wounds Science · 2014 · 518 citations
    18. Life before and beyond blistering: The role of collagen XVII in epidermal physiology Experimental Dermatology · 2018 · 63 citations
    19. Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy Journal of Investigative Dermatology · 2013 · 27 citations
    20. Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities Journal of Veterinary Medical Science · 2010 · 4 citations
    21. So Much More Than Just Structural Support: Laminin‐332 and Its Multifaceted Functions in Skin Homeostasis and Disease Experimental Dermatology · 2026
    22. Abstracts Veterinary Dermatology · 2020
    23. Hair follicle stem cell progeny heal blisters while pausing skin development EMBO reports · 2021 · 10 citations
    24. 858 IPSC derived keratinocyte differentiation from reprogrammed blood cells Journal of Investigative Dermatology · 2017
    25. TERMIS ‐ AMERICAS Toronto, Ontario, Canada July 10–13, 2022 Tissue Engineering Part A · 2022
    26. 565 hiPSC-derived skin organoids as tools for disease modelling: characterization of the epidermal-dermal junction Journal of Investigative Dermatology · 2022
    27. Mechanical forces in skin disorders Journal of Dermatological Science · 2018 · 65 citations
    28. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    29. KERATINS AND SKIN DISORDERS Cell biology international · 1996 · 28 citations
    30. 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing Journal of Investigative Dermatology · 2024