11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
January 2023 in “Integrative Journal of Medical Sciences” A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
April 2019 in “Journal of Investigative Dermatology” The humanized AA mouse model is better for testing new alopecia areata treatments.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
February 2026 in “International Journal of Nanomedicine” The system improved diabetic wound healing in rats.
12 citations
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June 2007 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” A reliable model for screening type II 5α-reductase inhibitors was created and validated.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A woman's rare hair loss condition improved on its own, suggesting this type might recover like common cases.
6 citations
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August 1989 in “European journal of pediatrics” Child with rickets improved with a specific vitamin D therapy, but alopecia did not change.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
5 citations
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February 2015 in “Endocrinology Diabetes and Metabolism Case Reports” Insulin therapy helped a man with autoimmune issues regrow his hair.
1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
October 2024 in “The Journal of Dermatology” Intravenous corticosteroid therapy is effective for long-term hair regrowth in alopecia areata, and a scoring system helps predict treatment success and relapse.
28 citations
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September 2008 in “Current Pharmaceutical Design” Allergic reactions to blood thinners are rare but can be serious, requiring careful management and alternative treatments.
69 citations
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December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
1 citations
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July 2025 in “Clinical and Experimental Dermatology” Deucravacitinib led to full hair regrowth in a severe alopecia areata patient.
January 2018 in “The Kaohsiung journal of medical sciences” A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
138 citations
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March 2007 in “Experimental cell research” Only a few hair-specific keratins are linked to inherited hair disorders.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.