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    Glossary Plakophilin-1

    protein crucial for cell adhesion in skin and hair

    Plakophilin-1 (PKP1) is a protein that plays a crucial role in the formation and maintenance of desmosomes, which are structures that help cells stick together, particularly in tissues that experience a lot of stress, like the skin and heart. Mutations in the gene encoding Plakophilin-1 can lead to skin disorders and hair loss conditions, such as ectodermal dysplasia/skin fragility syndrome, highlighting its importance in maintaining the integrity of epithelial tissues.

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    Research 30 of 78

    1. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    2. Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases 2026
    3. Decision letter: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness 2022
    4. Animal models of human skin disease Experimental Dermatology · 2004 · 4 citations
    5. Intercellular junctions in normal epidermis Experimental Dermatology · 2004 · 2 citations
    6. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis 2012 · 47 citations
    7. Immunolocalization of junctional proteins in human hairs indicates that the membrane complex stabilizes the inner root sheath while desmosomes contact the companion layer through specific keratins Acta Histochemica · 2013 · 12 citations
    8. 1311 Efficacy of topical tofacitinib in promoting hair growth in non-scarring alopecia Journal of Investigative Dermatology · 2018
    9. 1310 Anti-aging effects of retinoid hydroxypinacolone retinoate on skin models Journal of Investigative Dermatology · 2018 · 4 citations
    10. 1312 Nrf2 activation enhances the healing of cutaneous wounds through the activation of hair follicle stem cells Journal of Investigative Dermatology · 2018
    11. 1313 Fzd2 controls multiple aspects of epidermal development through distinct signaling mechanisms Journal of Investigative Dermatology · 2018 · 1 citations
    12. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation The Journal of Cell Biology · 2001 · 195 citations
    13. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    14. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    15. Cell death by cornification Biochimica et biophysica acta. Molecular cell research · 2013 · 375 citations
    16. A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity The Journal of Cell Biology · 2015 · 98 citations
    17. Proteomics as a tool to improve novel insights into skin diseases: what we know and where we should be going Frontiers in Surgery · 2022 · 3 citations
    18. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    19. Bidirectional binding property of high glycine–tyrosine keratin-associated protein contributes to the mechanical strength and shape of hair Journal of structural biology · 2013 · 46 citations
    20. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    21. Differential proteomics of lesional vs. non-lesional biopsies revealed non-immune mechanisms of alopecia areata Scientific Reports · 2018 · 19 citations
    22. Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation Veterinary sciences · 2023 · 3 citations
    23. Proteomic Analysis of Two Stem Cell Secretomes Used in Combination in a Topical Skin Care Product That Has Demonstrated Efficacy in a Double-Blinded, Vehicle-Controlled Clinical Trial Preprints.org · 2026
    24. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    25. Identification of Hypoxia and Mitochondrial-related Gene Signature and Prediction of Prognostic Model in Lung Adenocarcinoma Journal of Cancer · 2024 · 6 citations
    26. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    27. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    28. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    29. Gene Array Profiling and Immunomodulation Studies Define a Cell-Mediated Immune Response Underlying the Pathogenesis of Alopecia Areata in a Mouse Model and Humans Journal of Investigative Dermatology · 2002 · 114 citations
    30. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations