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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
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October 2003 in “Journal of Pharmacology and Experimental Therapeutics” Hair color loss can indicate the effectiveness of a drug targeting the KIT protein in mice and humans.
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
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August 2018 in “Cancer research” Fixing DNA errors is crucial to prevent skin cancer.
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
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April 2022 in “Biophysical Journal” Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
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January 2020 in “International Journal of Biological Sciences” Septin4 helps kill colon cancer cells by working with the protein BAX.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
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July 2018 in “Experimental dermatology” Autophagy is crucial for normal sebaceous gland function and sebum composition.
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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September 1990 in “Biochemical Journal” Enzyme purified and characterized for minoxidil sulphation in rat liver.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
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March 2012 in “Development” Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
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September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
April 2011 in “Cancer Research” 20(S)-Protopanaxadiol-aglycone may help prevent and treat prostate cancer by reducing androgen receptor activity.
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August 2020 in “Drug metabolism and drug interactions” The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
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June 2012 in “PLoS ONE” Blocking IL-8 can reduce skin rashes from cancer treatment.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
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September 2022 in “Sudan Journal of Medical Sciences” Danoprevir, remdesivir, and saridegib may effectively inhibit SARS-CoV-2.
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April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.