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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
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June 2021 in “Preprints.org” Hair relaxers and straighteners can be toxic to skin cells.
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January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
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June 2012 in “Journal of Structural Biology” Disulfide bonds are crucial for hair structure during keratinization.
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
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December 2005 in “Journal of Medicinal Chemistry” A brominated phenoxy compound effectively inhibits a human enzyme and shows potential for clinical use.
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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