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    Research 31–60 of 585

    1. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    2. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    3. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    4. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    5. Roles of tumor suppressors in regulating tumor-associated inflammation Cell Death & Differentiation · 2014 · 44 citations
    6. Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis Annual Review of Cancer Biology · 2023 · 13 citations
    7. Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations International Journal of Molecular Sciences · 2022 · 6 citations
    8. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2025
    9. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    10. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    11. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    12. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    13. Murine skin-derived multipotent papillary dermal fibroblast progenitors show germline potential in vitro Stem Cell Research & Therapy · 2023 · 4 citations
    14. Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development Proceedings of the National Academy of Sciences of the United States of America · 2003 · 93 citations
    15. Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development Biology Direct · 2016 · 19 citations
    16. Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease Cell Reports · 2022 · 14 citations
    17. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    18. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    19. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    20. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide Nature biotechnology · 2000 · 130 citations
    21. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    22. Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report BMC Urology · 2025
    23. The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development The EMBO Journal · 2007 · 125 citations
    24. β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis Journal of Investigative Dermatology · 2013 · 17 citations
    25. Chemically induced skin tumors arise from long-lived stem cells of the upper hair follicle Science · 2026
    26. Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization Structure · 2017 · 24 citations
    27. Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers Journal of Cellular Biochemistry · 2017 · 15 citations
    28. Muir-torre syndrome in two families in Leicestershire, United Kingdom Journal of the American Academy of Dermatology · 2005
    29. BJD Editor's Choice Journal of Investigative Dermatology · 2012
    30. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations