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    Research 30 of 551

    1. 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
    2. <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case Вопросы современной педиатрии · 2023
    3. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    4. Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents bioRxiv (Cold Spring Harbor Laboratory) · 2022
    5. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    6. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    7. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    8. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    9. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    10. 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
    11. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    12. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    13. Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse The Journal of Physiology · 2024 · 7 citations
    14. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    15. Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity Advanced Science · 2023
    16. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    17. 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
    18. Australasian Society for Dermatology Research Meeting, May 2006 Journal of Investigative Dermatology · 2007
    19. Hair Loss in Autoimmune Cutaneous Bullous Disorders Dermatologic Clinics · 2011 · 12 citations
    20. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    21. Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion PloS one · 2012 · 72 citations
    22. Against the Rules: Human Keratin K80 Journal of Biological Chemistry · 2010 · 40 citations
    23. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    24. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    25. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
    26. Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination Frontiers in Genetics · 2025 · 2 citations
    27. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    28. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    29. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    30. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations