19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
4 citations
,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
July 2025 in “Journal of Investigative Dermatology” October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
October 2023 in “Journal of pharmaceutical investigation” Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
2 citations
,
December 2024 in “Journal of Cosmetic Dermatology” SNP profiling allows personalized skincare treatments for better results and fewer side effects.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
12 citations
,
February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
41 citations
,
December 1988 in “Journal of Investigative Dermatology”
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
February 2013 in “Journal of the American Academy of Dermatology” Certain gene variations might increase the risk of a hair loss condition in Koreans.
5 citations
,
January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.