4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
80 citations
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June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
1 citations
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December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
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July 2016 in “Endocrinology” Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
18 citations
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January 2013 in “Journal of Investigative Dermatology” WIF1 helps keep skin stem cells inactive to prevent excessive cell growth.
62 citations
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December 2007 in “Journal of Cellular and Molecular Medicine” Kremen is crucial for proper development and preventing tumors by regulating Wnt signaling.
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January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
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May 2009 in “Dermato-endocrinology” Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
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February 2022 in “Human Gene Therapy” Increasing miR-149 reduces hair follicle stem cell growth and hair development by affecting certain cell growth pathways.
September 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
May 2004 in “International Journal of Cosmetic Science” Melanogenesis inhibitors like kojic acid and niacinamide can reduce inflammation and pigment production in skin cells.
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
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July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
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October 2000 in “The FASEB Journal” The p75 neurotrophin receptor is important for hair follicle regression by controlling cell death.
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October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
3 citations
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November 2024 in “Egyptian Journal of Medical Human Genetics” SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
August 2016 in “Journal of Investigative Dermatology” Activating Nrf2 can improve wound healing by increasing hair follicle stem cells.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
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May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
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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.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.