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    Research 30 of 140

    1. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    2. BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the <i>AIRE</i> gene mutation treated with ruxolitinib British Journal of Dermatology · 2025
    3. Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with <i>AIRE</i> gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib Clinical and Experimental Dermatology · 2026
    4. Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients Clinical genetics · 2009 · 26 citations
    5. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    6. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations
    7. Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1 Case reports in endocrinology · 2021 · 2 citations
    8. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations
    9. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    10. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    11. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    12. Clinical case of alopecia totalis in pediatric practice Sučasna pedìatrìâ. Ukraïna · 2023
    13. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    14. Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy Clinical Case Reports · 2024
    15. Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease 2018 · 26 citations
    16. The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17 ˜The œAmerican journal of pathology · 2011 · 24 citations
    17. Alopecia Areata KARGER eBooks · 2008 · 24 citations
    18. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    19. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    20. AIRE Deficiency Leads to the Development of Alopecia Areata‒Like Lesions in Mice 2022 · 2 citations
    21. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    22. Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice Cell death and disease · 2014 · 16 citations
    23. Role of the Autoimmune Regulator (<i>AIRE</i>) gene in alopecia areata: Strong association of a potentially functional <i>AIRE</i> polymorphism with alopecia universalis Tissue Antigens · 2002 · 86 citations
    24. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1 New England Journal of Medicine · 2024 · 71 citations
    25. Claves diagnósticas en displasias pilosas II 2021 · 2 citations
    26. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    27. The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity Journal of Allergy and Clinical Immunology · 2010 · 55 citations
    28. FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program Frontiers in Immunology · 2013 · 69 citations
    29. Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings Current Issues in Molecular Biology · 2024 · 37 citations
    30. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations