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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
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July 2006 in “British Journal of Dermatology” Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
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July 2025 in “Indian Journal of Forensic Medicine & Toxicology” DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
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November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
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August 2007 in “Journal of Surgical Research” Mice genetically modified to produce more Del1 protein had faster hair regrowth.
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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July 2021 in “The Journal of Sexual Medicine” Gene expression differences in PFS patients suggest a potential organic cause for symptoms.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
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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.
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June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
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December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
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September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.