The AMHR2-482A>G gene change is linked to higher PCOS risk.
April 2012 in “The FASEB Journal” LPA 4 helps control blood and lymph vessel development in zebrafish.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
4 citations
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August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
5 citations
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March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
38 citations
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January 2017 in “PPAR Research” PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
February 2026 in “The Laryngoscope” Airway issues can occur in Conradi–Hünermann–Happle syndrome and can be managed with minimally invasive procedures.
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.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
1 citations
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July 2025 in “Scientific Reports” Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
December 2023 in “Journal of Thoracic Disease” Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.