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• W2969485747 endingPage "626" @default.
• W2969485747 startingPage "613" @default.
• W2969485747 abstract "Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors of the head and neck. Germline and somatic mutations in a number of genes were shown to be associated with the development of CPGLs; however, molecular mechanisms of the tumor pathogenesis have not been fully understood. In the work, we have used whole exome sequencing data of 52 CPGLs obtained earlier. Using MutSigCV, the search for genes with high mutation rate was performed. Thirty four genes (MADCAM1, SARM1, ZFPM1, CTDSP2, DSPP, POTED, ANP32B, FRG2B, BAGE3, CCDC89, ACOT2, KRTAP10-1, ATXN1, GXYLT1, MUC2, AQP7, TMPRSS13, KRTAP4-3, PRR21, PSPH, PLBD1, ZNF595, IGSF3, PRR16, FAM157A, KCNJ12, HYDIN, IGFBP2, KIAA1671, DISC1, MUC6, XKR3, HRNR, and MUC4) potentially associated with the CPGL initiation and progression were revealed. The involvement of these genes in the pathogenesis of CPGLs was first shown, and possible mechanisms of their participation in that were discussed." @default.
• W2969485747 created "2019-08-29" @default.
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• W2969485747 date "2019-01-01" @default.
• W2969485747 modified "2023-10-06" @default.
• W2969485747 title "Новые гены, ассоциированные с образованием каротидных параганглиом" @default.
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