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February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
48 citations
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October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
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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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
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July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
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February 2009 in “Human Genetics” January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
June 2020 in “Nihon Ika Daigaku Igakkai Zasshi” aPKCλ is essential for hair follicle stem cell maintenance and wound healing.
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August 2010 in “Hereditas (Beijing)” Hoxc13 is essential for hair growth and follicle development.
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
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September 2012 in “Gene” The research identified a gene in sheep important for wool quality, which could help improve wool traits.
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
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August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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July 2008 in “British Journal of Dermatology” 25 citations
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September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
120 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
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July 2017 in “eLife” Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.