Mutation profiling in eight cases of vagal paragangliomas.

Anna V KudryavtsevaDmitry V KalininVladislav S PavlovMaria V SavvateevaMaria S FedorovaElena A PudovaAnastasiya A KobelyatskayaAlexander L GolovyukZulfiya G GuvatovaGeorge S RazmakhaevTatiana B DemidovaSergey A SimanovskyElena N SlavnovaAndrey А PoloznikovAndrey P PolyakovNataliya V MelnikovaAlexey A DmitrievGeorge S KrasnovAnastasiya V Snezhkina

Published in: BMC medical genomics (2020)

Results indicate a high heterogeneity among VPGLs, however, it seems that driver events in most cases are associated with mutations in the SDHx genes and SDH assembly factor-coding genes that lead to disruptions in the SDH complex.

Keyphrases

genome wide
single cell
bioinformatics analysis
genome wide identification
gene expression
transcription factor