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    Research 481–510 of 1000+

    1. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    2. Trichoscopy in genetic hair shaft abnormalities Journal of Dermatological Case Reports · 2008 · 74 citations
    3. Primary cicatricial alopecia: diagnosis and treatment Canadian Medical Association Journal · 2013 · 48 citations
    4. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    5. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    6. 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
    7. Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice—A Mechanistic Systematic Review International Journal of Molecular Sciences · 2022 · 10 citations
    8. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    9. “Structural imprinting” of the cutaneous immune effector function Tissue Barriers · 2020 · 4 citations
    10. CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024 · 1 citations
    11. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    12. Navaratnas in Dermatology Indian Dermatology Online Journal · 2024
    13. eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    14. CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    15. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    16. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    17. Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency Journal of personalized medicine · 2023
    18. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma JAAD case reports · 2017 · 23 citations
    19. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    20. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    21. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    22. Converging physiological roles of the anthrax toxin receptors F1000Research · 2019 · 15 citations
    23. Gene-knockout mice with abnormal epidermal and hair follicular development Journal of dermatological science · 1998 · 11 citations
    24. Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit 2013 · 9 citations
    25. Hair Keratin 1990 · 7 citations
    26. Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies Frontiers in Nutrition · 2025 · 3 citations
    27. Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature Frontiers in genetics · 2022 · 2 citations
    28. Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome Open Journal of Endocrine and Metabolic Diseases · 2017
    29. TONGUE, RED 2006
    30. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations