12 citations
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December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
30 citations
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October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
2 citations
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July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
22 citations
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October 1996 in “Dermatologic clinics” This review summarizes recent advances in understanding intermediate filament structure and their implications for pathological mutations and human diseases, but it reports no new experimental results.