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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 30 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
    11. LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development Journal of Investigative Dermatology · 2019
    12. USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO VCU Scholars Compass (Virginia Commonwealth University) · 2018
    13. PA05 A rare case of cardiocutaneous syndrome in a young child 2023
    14. A Pedunculated Follicular Hamartoma: A Case Showing a Central Trichofolliculoma‐like Tumor with Multiple Trichogenic Tumors The Journal of Dermatology · 1991 · 4 citations
    15. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    16. Hair growth promoting effects of adipose tissue-derived stem cells Journal of Dermatological Science · 2009 · 81 citations
    17. 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
    18. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    19. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    20. Hair Loss in Autoimmune Cutaneous Bullous Disorders Dermatologic Clinics · 2011 · 12 citations
    21. LB1077 Cutaneous responses to systemic iron: A potential role for epidermal turnover in mammalian iron excretion Journal of Investigative Dermatology · 2019
    22. The human keratins: biology and pathology Histochemistry and Cell Biology · 2008 · 1398 citations
    23. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    24. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    25. Mechanical forces in skin disorders Journal of Dermatological Science · 2018 · 65 citations
    26. Trichohyalin: Presence in the Granular Layer and Stratum Corneum of Normal Human Epidermis 1991 · 48 citations
    27. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    28. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    29. Differences in Expression of Specific Biomarkers Distinguish Human Beard from Scalp Dermal Papilla Cells Journal of Investigative Dermatology · 2006 · 41 citations
    30. The bright side of fibroblasts: molecular signature and regenerative cues in major organs npj Regenerative Medicine · 2021 · 35 citations