1 citations
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January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
18 citations
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July 2013 in “Journal of Leukocyte Biology” Nonimmunogenic forms of keratins K71 and K31 can delay and prevent alopecia areata.
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October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
140 citations
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October 2008 in “Nature Genetics” January 2006 in “Chinese Journal of Dermatology” Shorter GGC triplet repeats in the androgen receptor gene are linked to less hair loss in Han men.
92 citations
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February 2005 in “Journal of Investigative Dermatology” 62 citations
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January 2009 in “Biochemistry” Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
March 2024 in “Skin research and technology” High CRP levels could indicate vitamin D deficiency in people with alopecia areata.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
10 citations
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May 2018 in “Cell death discovery” HSP90 and lamin A/C are crucial for hair growth and could be targets for treating hair loss.
8 citations
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April 2023 in “Dermatology Practical & Conceptual” Certain blood markers, especially MLR, can help diagnose alopecia areata.
20 citations
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December 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Decreased CD200 in hair follicles may cause immune issues in some alopecia areata cases.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
Understanding genetics is crucial for treating heart and skin diseases.
133 citations
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January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
66 citations
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July 2010 in “Journal of Proteome Research” Trichohyalin may trigger the immune response causing alopecia areata.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
2 citations
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December 2024 in “Gene Reports” Higher IL-37 levels are linked to more severe alopecia areata, but the gene variation doesn't affect disease risk.
1 citations
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November 2024 in “Journal of the American Academy of Dermatology” People with celiac disease have a higher risk of developing alopecia areata.
13 citations
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February 1995 in “Archives of Dermatological Research” Gamma/delta T cells help defend skin against heavy metals.