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    Glossary Desmoplakin

    protein essential for cell adhesion in skin and heart tissues

    Desmoplakin is a protein crucial for the structural integrity of cells, particularly in tissues that experience mechanical stress, like the skin and heart. It is a key component of desmosomes, which are specialized cell structures that anchor cells together. Mutations in the DSP gene, which encodes desmoplakin, can lead to conditions such as arrhythmogenic right ventricular cardiomyopathy and certain skin disorders.

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    Research 10 of 148

    1. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    2. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    3. 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
    4. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations Clinical and experimental dermatology · 2013 · 11 citations
    5. Novel compound heterozygous mutations in the<i>desmoplakin</i>gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy Clinical and Experimental Dermatology · 2014 · 5 citations
    6. Effects of a complex mixture prepared from agrimonia, houttuynia, licorice, peony, and phellodendron on human skin cells Scientific Reports · 2020 · 4 citations
    7. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    8. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    9. Novel insights into cardiocutaneous syndromes 2022
    10. LB1081 Three-dimensional imaging of tight junction-network across multiple layers of human epidermis by array tomography using backscattered electron-mode scanning electron microscopy Journal of Investigative Dermatology · 2019
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