March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
A KRT32 gene variant causes loose anagen hair syndrome.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
58 citations
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
A specific gene change in APCDD1 increases the risk of hair loss.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
1 citations
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
March 2026 in “Journal of Personalized Medicine” Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
57 citations
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November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
December 2024 in “European journal of medical research” 2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.