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    Research 30 of 125

    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. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    3. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 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. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    6. PA05 A rare case of cardiocutaneous syndrome in a young child 2023
    7. Novel insights into cardiocutaneous syndromes 2022
    8. 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
    9. Multi-Stage Transcriptome Analysis Revealed the Growth Mechanism of Feathers and Hair Follicles during Induction Molting by Fasting in the Late Stage of Egg Laying Biology · 2023 · 1 citations
    10. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    11. Spatial variation and associated genes of total hair follicle density in goats Animal Bioscience · 2025 · 1 citations
    12. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    13. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    14. Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert. 2004 · 62 citations
    15. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    16. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    17. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities Archives of Dermatological Research · 2012 · 6 citations
    18. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    19. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    20. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    21. Computational derivation of a molecular framework for hair follicle biology from disease genes Scientific Reports · 2017 · 4 citations
    22. Skin transcriptome profiling of Changthangi goats highlights the relevance of genes involved in Pashmina production Scientific reports · 2020 · 22 citations
    23. Human Fetal Scalp Dermal Papilla Enriched Genes and the Role of R-Spondin-1 in the Restoration of Hair Neogenesis in Adult Mouse Cells Frontiers in Cell and Developmental Biology · 2020 · 8 citations
    24. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    25. 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
    26. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    27. Alopecia Areata. Current situation and perspectives Archivos Argentinos De Pediatria · 2017 · 34 citations
    28. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    29. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    30. 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