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    Research 30 of 157

    1. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    2. 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
    3. 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
    4. PA05 A rare case of cardiocutaneous syndrome in a young child 2023
    5. Novel insights into cardiocutaneous syndromes 2022
    6. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations Clinical and experimental dermatology · 2013 · 11 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. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    9. 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
    10. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    11. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    12. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    13. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    14. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    15. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    16. Effects of a complex mixture prepared from agrimonia, houttuynia, licorice, peony, and phellodendron on human skin cells Scientific Reports · 2020 · 4 citations
    17. 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
    18. LB1076 Using the frog embryonic epidermis as a model to study desmosome function during development Journal of Investigative Dermatology · 2019
    19. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    20. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    21. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    22. Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families Frontiers in Medicine · 2024 · 3 citations
    23. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    24. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    25. Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer Cells · 2020 · 22 citations
    26. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    27. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    28. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    29. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    30. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations