Search
for

    Glossary Recessive Dystrophic Epidermolysis Bullosa

    genetic disorder causing extremely fragile, blistering skin from minor friction

    Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe genetic skin disorder characterized by extremely fragile skin that blisters and tears from minor friction or trauma. It is caused by mutations in the COL7A1 gene, which leads to a deficiency in type VII collagen, a protein essential for anchoring the layers of skin together.

    Related Terms

    Sort by

    Research 30 of 1000+

    1. No Evidence That Human Papillomavirus Is Responsible for the Aggressive Nature of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Journal of Investigative Dermatology · 2010 · 14 citations
    2. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    3. CRISPR/Cas9-Mediated Generation of <i>COL7A1</i>-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa. PubMed · 2023 · 2 citations
    4. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    5. 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
    6. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    7. 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2024
    8. Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa EMBO molecular medicine · 2024
    9. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    10. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    11. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    12. 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2019
    13. 577 Successful allogeneic epidermal grafting of chronic recessive dystrophic epidermolysis bullosa wounds from hematopoietic cell donors in the outpatient setting Journal of Investigative Dermatology · 2019
    14. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    15. Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: A proof-of-concept study Journal of Tissue Viability · 2020 · 7 citations
    16. 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Journal of Investigative Dermatology · 2024
    17. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    18. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    19. Mechanical forces in skin disorders Journal of Dermatological Science · 2018 · 65 citations
    20. First symposium on natural gene therapy of the skin Experimental dermatology · 2012 · 9 citations
    21. Mesenchymal Stem Cells for the Treatment of Skin Diseases AIMS cell and tissue engineering · 2017 · 2 citations
    22. 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing Journal of Investigative Dermatology · 2024
    23. TERMIS ‐ AMERICAS Toronto, Ontario, Canada July 10–13, 2022 Tissue Engineering Part A · 2022
    24. 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy Journal of Investigative Dermatology · 2019
    25. Efficacy of a topical formulation of Henna (Lawsonia inermis) on the itch and wound healing in patients with epidermolysis bullosa: A pilot single-arm clinical trial Dermatology practical & conceptual · 2022
    26. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    27. Congenital and Hereditary Skin Diseases 2018
    28. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    29. Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro American Journal Of Pathology · 2003 · 20 citations
    30. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations