22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
April 2012 in “Journal of the American Academy of Dermatology” Psoriasis patients have more comorbidities, including autoimmune diseases and other health issues, than those without psoriasis.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
January 2025 in “Annals of Clinical Reviews & Case Reports” Early diagnosis and a multidisciplinary approach are key to managing Sjogren's Disease symptoms.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
4 citations
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April 2011 in “International Journal of Radiation Biology” Radiation significantly slows down wound healing in mice.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
71 citations
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May 2019 in “Rheumatology” Tph cells are linked to the severity of systemic lupus erythematosus.
13 citations
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August 2000 in “Blood” Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
82 citations
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March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
October 2014 in “Aktuelle Dermatologie” A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
2 citations
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November 2018 in “Indian Journal of Pharmaceutical Education” The developed model can predict effective 5-alpha-reductase enzyme inhibitors.
18 citations
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October 2022 in “JCI Insight” Abnormal amino acid metabolism may worsen rosacea symptoms.
135 citations
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May 2002 in “Anesthesiology” CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
2 citations
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December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
4 citations
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December 2025 in “Frontiers in Immunology” Autoimmune thyroid disease raises the risk of many health issues but lowers the risk of lung cancer and allergic rhinitis.
January 2023 in “Bio web of conferences/BIO web of conferences” The document concludes that specific dermoscopic features can help diagnose different facial red skin conditions.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
September 2017 in “Journal of Investigative Dermatology” Activating the hexosamine pathway can improve skin health and increase hair follicle stem cells.
101 citations
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
January 2026 in “Immunity & Inflammation” Autoimmune skin diseases result from genetic and environmental factors disrupting immune checkpoints.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
July 2022 in “Skin research and technology” Skin CT can help diagnose rosacea by identifying specific skin features, but should be used with clinical signs to avoid misdiagnosis.
March 2026 in “Journal of Investigative Dermatology” July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.