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    Research 301–330 of 1000+

    1. 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
    2. CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep ˜The œFEBS journal · 2017 · 47 citations
    3. Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty The Journal of Clinical Endocrinology & Metabolism · 2016 · 41 citations
    4. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    5. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    6. The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience Frontiers in Pediatrics · 2022 · 35 citations
    7. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    8. IL-36γ drives skin toxicity induced by EGFR/MEK inhibition and commensal Cutibacterium acnes 2019 · 32 citations
    9. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    10. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    11. Poster Presentations Australasian Journal of Dermatology · 2021 · 25 citations
    12. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    13. 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
    14. 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
    15. Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes American Journal of Medical Genetics Part A · 2021 · 16 citations
    16. Molecular Background of Pi Deficiency-Induced Root Hair Growth in Brassica carinata – A Fasciclin-Like Arabinogalactan Protein Is Involved Frontiers in Plant Science · 2018 · 15 citations
    17. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    18. CRISPR/Cas9-mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen Genes · 2020 · 13 citations
    19. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    20. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    21. The expression of equine keratins K42 and K124 is restricted to the hoof epidermal lamellae of Equus caballus PLoS ONE · 2019 · 9 citations
    22. Synthetically programmed antioxidant delivery by a domesticated skin commensal Cell Systems · 2025 · 8 citations
    23. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    24. Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits Animals · 2019 · 7 citations
    25. Associations between clinical data, vaccination status, antibody responses, and post-COVID-19 symptoms in Thais infected with SARS-CoV-2 Delta and Omicron variants: a 1-year follow-up study BMC Infectious Diseases · 2024 · 6 citations
    26. Transcriptional regulation of the thymus master regulator <i>Foxn1</i> Science immunology · 2022 · 6 citations
    27. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    28. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    29. A Concise Review of Organoid Tissue Engineering: Regenerative Applications and Precision Medicine Organoids · 2025 · 4 citations
    30. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations