March 2018 in “Suez Canal University Medical Journal” NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
10 citations
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September 2004 in “PubMed” Vitamin D receptor FokI gene variation is not linked to alopecia areata.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
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.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
2 citations
,
February 2017 in “International Journal of Molecular Sciences” Erdr1 could be a new marker for diagnosing hair loss.
42 citations
,
August 1999 in “The American journal of pathology” Basal cell carcinomas have much higher levels of Vitamin D3 receptors compared to healthy skin.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
17 citations
,
April 2023 in “Cell Biology International” RDW is a useful, cost-effective tool for diagnosing and monitoring various diseases.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
March 2026 in “Journal of Investigative Dermatology” 66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
48 citations
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June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.