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      research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders

      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.

      research Viewpoint 4

      1 citations , April 2008 in “Experimental Dermatology”
      Hidradenitis suppurativa may mainly affect vellus hair follicles, not terminal ones.
      Office Dermatology

      research Office Dermatology

      1 citations , July 1965 in “Postgraduate medicine”
      Most skin conditions can be managed with general medical knowledge.

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