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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
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October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
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February 2004 in “Nature” OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
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January 2022 in “Dermatology Research and Practice” Higher CD70 and CD27 gene expression in alopecia areata lesions predicts disease severity and activity.
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September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
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August 2008 in “Journal of The European Academy of Dermatology and Venereology” Bald areas have lower cell growth, more DNA damage, and increased cell death.
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April 2020 in “Conicet” PRX01, PRX44, and PRX73 affect root hair growth by interacting with extensins in Arabidopsis.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
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January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
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August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
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July 2022 in “International Journal of Molecular Sciences” 17β-estradiol lowers polyamine oxidase levels in breast cancer cells through estrogen receptor 2.
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May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
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March 2014 in “The FASEB Journal” The HIF-2α/ARNT complex is important for hair follicle development by controlling cell growth.
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
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July 2011 in “Journal of Biochemistry/The journal of biochemistry” New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.