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    Sort by

    Research 241–270 of 659

    1. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    2. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    3. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    4. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    5. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    6. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    7. cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16 Journal of Biological Chemistry · 1998 · 32 citations
    8. Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds Genetics selection evolution · 2019 · 30 citations
    9. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    10. Menopause, skin and common dermatoses. Part 2: skin disorders Clinical and Experimental Dermatology · 2022 · 25 citations
    11. Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals Frontiers in Zoology · 2017 · 25 citations
    12. Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol Journal of Biological Chemistry · 2022 · 24 citations
    13. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    14. Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis Pharmaceutics · 2021 · 15 citations
    15. The Important Role of Leptin in Modulating the Risk of Dermatological Diseases Frontiers in immunology · 2021 · 15 citations
    16. The Pressurized Skin: A Review on the Pathological Effect of Mechanical Pressure on the Skin from the Cellular Perspective International Journal of Molecular Sciences · 2023 · 12 citations
    17. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    18. A rare case of woolly hair with unusual associations Indian dermatology online journal · 2013 · 12 citations
    19. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    20. 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
    21. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    22. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations
    23. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    24. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations
    25. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    26. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    27. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    28. Ichthyosis hystrix Indian dermatology online journal · 2013 · 7 citations
    29. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    30. Off-label uses of retinoids in dermatology Our Dermatology Online · 2012 · 6 citations