The AMHR2-482A>G gene change is linked to higher PCOS risk.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
8 citations
,
January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
10 citations
,
August 2023 in “Animals” SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
5 citations
,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
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.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
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.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
80 citations
,
June 1997 in “The American Journal of Human Genetics” April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
4 citations
,
February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
193 citations
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June 2007 in “The Plant Journal” GhDET2 is crucial for cotton fiber growth.
30 citations
,
October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.