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The transcriptomic architecture of common cancers reflects synthetic lethal interactions - Nature Genetics Tumor cells upregulate compensatory buffering genes following tumor suppressor loss. These genes may represent new synthetic lethal partners that could be harnessed therapeutically.

Uncovering synthetic lethal vulnerabilities across cancers. Upregulation of #TWIST1/2, #VIM, and integrin components ( #ITGB5, #ITGAV, #FERMT2 ) constitutes a synthetic lethal buffering mechanism that preserves tumor fitness despite #CDH1 #Ecadherin loss #lobular #DGC
www.nature.com/articles/s41...

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Novel #IEI due to biallelic variants in the gene coding for Integrin alpha V #ITGAV, incomplete loss of function variants cause neurodevelopmental defects, colitis, and features of #atopy
#pediatricdermatology #genetics #rare diseases

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