14 citations
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
21 citations
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January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.
17 citations
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November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
July 2008 in “VTechWorks (Virginia Tech)” PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
June 2020 in “Nihon Ika Daigaku Igakkai Zasshi” aPKCλ is essential for hair follicle stem cell maintenance and wound healing.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
64 citations
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January 2010 in “The FASEB Journal” Prolactin affects the production of different keratins in human hair, which could lead to new treatments for skin and hair disorders.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
17 citations
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February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
April 1996 in “Journal of Dermatological Science” Activating cannabinoid receptor 1 may help manage psoriasis by reducing certain keratins.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
45 citations
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January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
2 citations
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September 2020 in “Biomedical materials” Recombinant keratin materials may better promote skin cell differentiation than natural keratin.
226 citations
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January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
6 citations
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
6 citations
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December 2018 in “International Journal of Cosmetic Science” CARB is a strong barrier in human hair that prevents dye penetration.
3 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
88 citations
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March 2004 in “Journal of Investigative Dermatology” July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
27 citations
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May 2004 in “Journal of Investigative Dermatology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Too much IKZF1 and Ikaros protein may cause alopecia areata.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.