66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
21 citations
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March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
1 citations
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January 2012 in “Journal of The Society of Japanese Women Scientists” This study analyzed the lipid composition of mouse hair, focusing on sphingolipids, and found significant differences in ceramides, glucosylceramides, and sphingomyelins between hair follicles and hair shafts.
40 citations
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July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that the expression of VLCFA biosynthesis genes is suppressed in skin hyperplasia and cancer, which could influence keratinocyte function.