ADAM17 Variant Causes Hair Loss via Ubiquitin Ligase TRIM47 Mediated Degradation

    May 2024 in “ JCI insight
    Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kai Zhou, Ai Zhao, Qing Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li
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    Studysummary In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
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