August 2019 in “Journal of Investigative Dermatology” This study found that tight junctions extend to the most superficial layer of the stratum granulosum in human skin, challenging previous claims of their limited presence in the epidermis.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
372 citations
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December 2004 in “Nature Genetics”
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.