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    Glossary COL7A1

    gene encoding collagen crucial for skin strength and stability

    The COL7A1 gene provides instructions for making a protein called collagen type VII, which is crucial for the strength and stability of the skin. Mutations in this gene can lead to a condition called dystrophic epidermolysis bullosa, where the skin becomes very fragile and blisters easily.

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    Research 30 of 808

    1. Restoration of Hair Luster via Novel Biomarker COL7A1 by Minoxidil, Caffeine, and Biotin Current Issues in Molecular Biology · 2025
    2. 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing Journal of Investigative Dermatology · 2024
    3. Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis Science · 2016 · 242 citations
    4. Expression of anti-aging type-XVII collagen (COL17A1/BP180) in hair follicle-associated pluripotent (HAP) stem cells during differentiation Tissue & Cell · 2019 · 11 citations
    5. Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis Journal of Dermatological Science · 2017 · 8 citations
    6. An <i>mTurq2-Col4a1</i> mouse model allows for live visualization of mammalian basement membrane development 2023
    7. 244 Defective maintenance of hair follicle stem cells through COL17A1 loss orchestrates the hair follicle aging program Journal of Investigative Dermatology · 2017
    8. A Window into Mammalian Basement Membrane Development: Insights from the<i>mTurq2-Col4a1</i>Mouse Model bioRxiv (Cold Spring Harbor Laboratory) · 2023
    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. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    11. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    12. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    13. CRISPR/Cas9-Mediated Generation of <i>COL7A1</i>-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa. PubMed · 2023 · 2 citations
    14. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    15. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    16. Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion Communications Biology · 2026
    17. Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion 2025
    18. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    19. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    20. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    21. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    22. A Neonate with Blisters Pediatrics in Review · 2020
    23. Editors' Picks Journal of Investigative Dermatology · 2013
    24. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    25. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    26. TERMIS ‐ AMERICAS Toronto, Ontario, Canada July 10–13, 2022 Tissue Engineering Part A · 2022
    27. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    28. 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2019
    29. Hair Follicle Stem Cells Provide a Functional Niche for Melanocyte Stem Cells Cell stem cell · 2011 · 283 citations
    30. Foxc1 reinforces quiescence in self-renewing hair follicle stem cells Science · 2016 · 142 citations