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.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
47 citations
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February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
January 2024 in “American journal of clinical dermatology” Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
6 citations
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March 2014 in “Livestock science” Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” TRα and CRABPII genes change their activity levels during goat fetal skin development.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
24 citations
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November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
5 citations
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March 2022 in “Clinical Cosmetic and Investigational Dermatology” The model accurately predicts skin conditions in Korean women using genetic information, aiding personalized skincare.
27 citations
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September 2014 in “JAMA dermatology” Female donor to male recipient sex mismatch and positive ACA-IgG are key risk factors for vitiligo and alopecia areata in chronic GvHD patients.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
12 citations
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January 2013 in “International Journal of Genomics” The study identified key genes involved in goat hair growth.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
38 citations
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January 2020 in “Cell Transplantation” Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
June 2025 in “Albus Scientia” MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
February 2025 in “PubMed” CS12192 effectively treats alopecia areata with better safety than current options.
18 citations
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January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
July 2024 in “Journal of Investigative Dermatology” JW0061 may be a new treatment for hair loss by promoting hair growth through WNT signaling.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
21 citations
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January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.