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    Research 211–240 of 815

    1. Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function Molecular Medicine · 2004 · 31 citations
    2. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    3. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    4. Hairless is a nuclear receptor corepressor essential for skin function Nuclear Receptor Signaling · 2009 · 30 citations
    5. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    6. Diagnostic approach to low‐renin hypertension Clinical Endocrinology · 2018 · 29 citations
    7. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    8. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    9. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    10. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    11. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    12. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    13. Characterization of minoxidil/hydroxypropyl-β-cyclodextrin inclusion complex in aqueous alginate gel useful for alopecia management: Efficacy evaluation in male rat European Journal of Pharmaceutics and Biopharmaceutics · 2017 · 19 citations
    14. Rabson-Mendenhall syndrome: two case reports and a brief review of the literature Odontology · 2010 · 18 citations
    15. What′s new in cicatricial alopecia? Indian Journal of Dermatology, Venereology and Leprology · 2013 · 16 citations
    16. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    17. Hormonal regulation in male androgenetic alopecia—Sex hormones and beyond: Evidence from recent genetic studies Experimental Dermatology · 2020 · 15 citations
    18. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    19. Pannexin 3 regulates skin development via Epiprofin Scientific Reports · 2021 · 13 citations
    20. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    21. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    22. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    23. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    24. Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor<sup>†</sup> Photochemistry and photobiology · 2008 · 10 citations
    25. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    26. Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men Cancer Epidemiology, Biomarkers & Prevention · 2014 · 9 citations
    27. Hyperadrenocorticism in Ferrets 2013 · 6 citations
    28. AIMP1-Derived Peptide Secreted from Hair Follicle Stem Cells Promotes Hair Growth by Activating Dermal Papilla Cells International Journal of Biological Sciences · 2024 · 5 citations
    29. Significance of iron status in hair loss in women British Journal of Dermatology · 2003 · 5 citations
    30. TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target Medeniyet Medical Journal · 2025 · 4 citations