September 2025 in “Digital Commons - RU (Rockefeller University)” FOXC1 is essential for keeping hair follicle stem cells inactive and maintaining their environment for healthy hair growth.
March 2026 in “Experimental Dermatology” The study presents a novel in vitro model using NTERT keratinocytes with AEC-related TP63 mutations to investigate Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC), a disorder caused by mutations in the TP63 gene. This model overcomes limitations of iPSC-derived keratinocytes by allowing large-scale production of disease-relevant material. N-AEC keratinocytes exhibit defects similar to those in AEC patient skin, such as downregulation of cell adhesion proteins and pathological features like intra-epidermal cysts. This model is a valuable tool for understanding skin fragility in AEC and other genetic skin disorders, aiding in the development of new therapeutic strategies.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
7 citations
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January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
32 citations
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December 2014 in “Cold Spring Harbor Perspectives in Medicine” Disruptions in epidermal polarity genes can lead to skin diseases.