December 2025 in “The Journal of Cell Biology” Keratin 15 helps maintain skin cell growth and repair.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
36 citations
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October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
February 2026 in “Pediatric Dermatology” 9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
40 citations
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December 2010 in “Human Genetics” 9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
1 citations
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
8 citations
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January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
8 citations
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December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
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.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
14 citations
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November 2007 in “Journal of Dermatological Science” Vitamin C derivative may promote hair growth by activating specific genes.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
1 citations
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April 2025 in “BMC Veterinary Research” PSAT1 is key for hair growth and stem cell function in cashmere goats.
16 citations
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August 2004 in “Tetrahedron” Scientists made all eight versions of a compound called cyoctol, but found it's not an anti-androgen and it fully breaks down in the skin.
March 2014 in “Journal of The American Academy of Dermatology” Cortexolone 17a-propionate may be an effective new treatment for hair loss.
May 2025 in “Frontiers in Veterinary Science” Cashmere quality differences are due to gene expression variations affecting hair development and adaptation to cold.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.