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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
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April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
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August 2022 in “Journal of Nanobiotechnology” Advancements in nanoformulations for CRISPR-Cas9 genome editing can respond to specific triggers for controlled gene editing, showing promise in treating incurable diseases, but challenges like precision and system design complexity still need to be addressed.
Suppressing ODC activity reduces tumor growth in hair follicles.
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
Key genes for mink fur have been identified, aiding conservation efforts.
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February 2009 in “Human Genetics” May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
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August 2022 in “Biochemistry (Moscow)” CRISPR-Cas9 allows precise DNA editing but raises ethical concerns about modifying human embryos.
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April 2021 in “NAR Genomics and Bioinformatics” PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
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February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.