10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
2 citations
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March 2010 in “Acta Biochimica Polonica” Raltitrexed conjugates are less potent than the free drug but more effective at high concentrations.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
48 citations
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July 2023 in “Pediatric Dermatology” Ritlecitinib effectively regrows hair in adolescents with alopecia areata and is safe.
1 citations
,
September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
September 2025 in “Value in Health” 61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
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.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
21 citations
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July 2011 in “Journal of the American Academy of Dermatology” A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
111 citations
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October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
11 citations
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March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.