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    Research 121–150 of 235

    1. 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
    2. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    3. Endogenous Hypercortisolism in a Patient With Addison’s Disease: An Unusual Case of Adrenal Cortical Adenoma Lithuanian University of Health Sciences · 2026
    4. APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up Journal of Human Immunity · 2025
    5. Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis Nature · 2000 · 303 citations
    6. Evolution and Function of Vitamin D 2003 · 188 citations
    7. The role of vitamin D receptor mutations in the development of alopecia Molecular and Cellular Endocrinology · 2011 · 109 citations
    8. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor Molecular Genetics and Metabolism · 2009 · 50 citations
    9. The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D3 The Journal of Steroid Biochemistry and Molecular Biology · 2015 · 37 citations
    10. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    11. Disruption of tubular Flcn expression as a mouse model for renal tumor induction Kidney International · 2015 · 29 citations
    12. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014 · 25 citations
    13. A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses Bone · 2014 · 12 citations
    14. Serum brain‐derived neurotrophic factor and vitamin D: Two concordant players controlling depression among alopecia areata and vitiligo patients: A case–control study Journal of Cosmetic Dermatology · 2023 · 6 citations
    15. Renal tubular dysfunction presenting as recurrent hypokalemic periodic quadriparesis in systemic lupus erythematosus Indian Journal of Nephrology · 2014 · 5 citations
    16. Risk of Acute Pancreatitis in Users of Finasteride Journal of Clinical Gastroenterology · 2004 · 4 citations
    17. Polycystic ovary syndrome The Nurse Practitioner · 2019 · 4 citations
    18. Clinical dermatoendocrinology: saving lives by looking at the skin. PubMed · 2026
    19. Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus Indian Dermatology Online Journal · 2025
    20. The skin manifestations in end-stage renal disease patients in Jordan, single-center experience BMC Nephrology · 2025
    21. Serum Vitamin D Level in Pediatric Alopecia Areata Indian Journal of Paediatric Dermatology · 2025
    22. THU471 Resolution Of Elevated Alkaline Phosphatase After Joint Replacement In Severe Osteoarthritis Journal of the Endocrine Society · 2023
    23. Calcified Epidermal Cyst on the Neck International Journal of Dermatology and Venereology · 2020
    24. Bone Health - Running. Can You Outrun Your Past? Medicine and science in sports and exercise · 2019
    25. Rickets with alopecia: An inborn error of vitaminD metabolism 1979 · 170 citations
    26. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1 New England Journal of Medicine · 2024 · 71 citations
    27. 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
    28. Queen Anne sign Canadian Medical Association Journal · 2022 · 3 citations
    29. Hypothyroidism, eyelash loss Cleveland Clinic Journal of Medicine · 2020 · 3 citations
    30. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026