October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
21 citations
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December 2015 in “European journal of cell biology” In this study, researchers demonstrated that follicular tight junctions in porcine skin form a barrier to nanoparticle penetration, particularly in upper regions, which supports its use as a model for human skin.
18 citations
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January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
9 citations
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July 2007 in “Journal of Investigative Dermatology” This study found that exposure to 12-O-tetradecanoyl-phorbol-13-acetate in mouse skin caused changes in claudin expression and localization, indicating disruption and eventual recovery of the epidermal barrier.
November 2025 in “Journal of Investigative Dermatology” Dark skin has stronger barriers and structure due to specific gene activity.