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    Research 481–510 of 1000+

    1. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 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. Progressive Alopecia Reveals Decreasing Stem Cell Activation Probability during Aging of Mice with Epidermal Deletion of DNA Methyltransferase 1 Journal of Investigative Dermatology · 2012 · 72 citations
    4. Regulation of stem cell function by protein ubiquitylation EMBO Reports · 2014 · 55 citations
    5. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles Journal of Investigative Dermatology · 2002 · 53 citations
    6. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    7. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    8. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    9. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    10. Disruption of tubular Flcn expression as a mouse model for renal tumor induction Kidney International · 2015 · 29 citations
    11. Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin 2015 · 28 citations
    12. Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet ˜The œFASEB journal · 2013 · 28 citations
    13. Genetically modified laboratory mice with sebaceous glands abnormalities Cellular and Molecular Life Sciences · 2016 · 22 citations
    14. Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of <i>Foxn1</i> in Thymic Epithelial Cells 2019 · 17 citations
    15. Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease Cell Reports · 2022 · 14 citations
    16. Skin-type-dependent development of murine mechanosensory neurons Developmental Cell · 2023 · 13 citations
    17. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    18. Acute sensitivity of the oral mucosa to oncogenic <i>K‐ras</i> Journal of pathology · 2011 · 12 citations
    19. The heme-responsive PrrH sRNA regulates <i>Pseudomonas aeruginosa</i> pyochelin gene expression mSphere · 2023 · 11 citations
    20. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 11 citations
    21. <i>Pseudomonas aeruginosa</i> heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection mBio · 2024 · 9 citations
    22. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    23. A novel 22-bp InDel within <i>FGF7</i> gene is significantly associated with growth traits in goat Animal Biotechnology · 2023 · 6 citations
    24. ACE1 rs1799752 polymorphism is not associated with long-COVID symptomatology in previously hospitalized COVID-19 survivors Journal of Infection · 2022 · 6 citations
    25. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    26. Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits BMC Genomics · 2024 · 2 citations
    27. Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex Veterinary Pathology · 2023 · 2 citations
    28. AIRE Deficiency Leads to the Development of Alopecia Areata‒Like Lesions in Mice 2022 · 2 citations
    29. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    30. Re‐Innovation in Clinical Trial Designs Based on Precision Therapy Cancer Innovation · 2025