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    Research 241–270 of 668

    1. Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis Dermatology Online Journal · 2013 · 78 citations
    2. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    3. A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11 Mammalian Genome · 1998 · 76 citations
    4. Keratins and skin disease 2015 · 69 citations
    5. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    6. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    7. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    8. Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13 Mammalian Genome · 2006 · 51 citations
    9. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    10. Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly PLoS ONE · 2015 · 42 citations
    11. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    12. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    13. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    14. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    15. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    16. 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
    17. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    18. cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16 Journal of Biological Chemistry · 1998 · 32 citations
    19. 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
    20. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    21. Menopause, skin and common dermatoses. Part 2: skin disorders Clinical and Experimental Dermatology · 2022 · 25 citations
    22. Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals Frontiers in Zoology · 2017 · 25 citations
    23. Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol Journal of Biological Chemistry · 2022 · 24 citations
    24. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    25. Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis Pharmaceutics · 2021 · 15 citations
    26. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    27. A rare case of woolly hair with unusual associations Indian dermatology online journal · 2013 · 12 citations
    28. 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
    29. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    30. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations