Article
Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.
Scientific reports - 25 Oct 2024
Wedemeyer Michelle A, Ding Tianli, Garfinkle Elizabeth A R, Westfall Jesse J, Navarro Jaye B, Hernandez Gonzalez Maria Elena, Varga Elizabeth A, Witman Patricia, Mardis Elaine R, Cottrell Catherine E, Miller Anthony R, Miller Katherine E
Abstract excerpt
PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant....
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