July 2022 in “Journal of Investigative Dermatology” Inhibiting TYK2 can restore hair growth in alopecia areata.
140 citations
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October 2008 in “Nature Genetics” 93 citations
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May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
22 citations
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May 2007 in “Molecular Biotechnology” March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
September 1999 in “Molecular Carcinogenesis” Increased ODC expression makes normally tumor-resistant mice more prone to tumor development.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Linoleic acid and magnesium are key in alopecia areata progression, and tofacitinib can help by affecting their pathway.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
1 citations
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October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
50 citations
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December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Linoleic acid and magnesium are key in alopecia areata progression, and tofacitinib can help by affecting their pathway.
3 citations
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August 2024 in “Frontiers in Endocrinology” Thyroid issues can cause alopecia areata.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
103 citations
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July 2001 in “Proceedings of the National Academy of Sciences” TGFβ1 expression in skin causes hair loss and skin thickening, but these effects are reversible.
1 citations
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November 2025 in “Science Advances” Two gene variants cause white spots in cattle.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
1 citations
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April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.