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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
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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.
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March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
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