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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
Defective nuclear transport may cause gene expression changes in Progeria.
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January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
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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.
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July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
January 2026 in “Figshare” January 2026 in “Figshare”
Certain plasma proteins are linked to prostate cancer risk and could help in early detection and treatment.
January 2026 in “Journal of Radiation Research” 53BP1 focus analysis in hair cells can help estimate radiation doses.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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January 2018 in “Open journal of stomatology” Tongue cancer cells show more plectin-1 than non-cancer cells, but both have similar levels of trichohyalin.
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September 2023 in “Experimental physiology” A special receptor in sensory nerve endings helps control how they respond to stretching.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
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September 2012 in “Biomacromolecules” Disulfide bonds make keratin in hair stronger and tougher.
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March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
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October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
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October 2023 in “Pharmaceuticals” Sulfated polysaccharides from Microcosmus exasperatus may help treat cancer without causing blood thinning.
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
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June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
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January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.