A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
234 citations
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April 2000 in “Gene” Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
July 2025 in “Journal of Investigative Dermatology” 372 citations
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December 2004 in “Nature Genetics” September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
September 2016 in “Journal of Dermatological Science” Both SMS1 and SMS2 are crucial for normal hair growth and cycle in mice.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
3 citations
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September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
April 2023 in “Journal of Investigative Dermatology” SOX2 helps reduce wound size and pressure ulcer formation by suppressing oxidative stress and increasing antioxidant activity in mice.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
51 citations
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January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
354 citations
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
73 citations
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May 2009 in “Proceedings of the National Academy of Sciences” Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
June 2008 in “Wound Repair and Regeneration” Msx-2 gene removal speeds up skin wound healing in mice.
15 citations
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January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
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.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
166 citations
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September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.