16 citations
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December 2015 in “Journal of Investigative Dermatology” Alopecia areata involves persistent gene abnormalities and immune activity, even in regrown hair, suggesting a risk of relapse.
1 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Heat shock proteins help basal cell carcinoma grow by responding to inflammation signals.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
10 citations
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September 2021 in “The FASEB Journal” ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
1 citations
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October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
2 citations
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January 2024 in “Proceedings of the National Academy of Sciences of the United States of America” The research created a detailed map of skin cells, showing that certain cells in basal cell carcinoma may come from hair follicles and could help the cancer grow.
November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
June 2024 in “Journal of the European Academy of Dermatology and Venereology” Allergens might contribute to CCCA, so avoiding them could help manage the condition.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
61 citations
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September 2010 in “Genomics” The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
16 citations
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September 2020 in “Animals” circRNA-1926 helps goat stem cells turn into hair follicles by affecting miR-148a/b-3p and CDK19.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
76 citations
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January 1998 in “Mammalian Genome”