research Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome Caused by a Novel CLDN1 Mutation: A Case Report and Literature Review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
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5 / 131 resultsresearch Delayed Epidermal Permeability Barrier Formation and Hair Follicle Aberrations in Inv-Cldn6 Mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Claudin Expression Modulations Reflect an Injury Response in the Murine Epidermis
Claudin expression changes help the skin respond to injury.
research Spatial Transcriptomics Links Gene Expression Profiles to Functional and Structural Traits of Darkly Pigmented Skin
Dark skin has stronger barriers and structure due to specific gene activity.
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