February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
June 2006 in “British Journal of Dermatology” Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
5 citations
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January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
62 citations
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March 2008 in “American Journal of Human Genetics” Hair loss gene found on chromosome 3q26.
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.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
October 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
7 citations
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January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
16 citations
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January 2012 in “European Journal of Endocrinology” The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.