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For example, oncogenic activation of the RAS genes by point mutation activates the pathway via the interaction of RAS with p110α, the catalytic subunit of PI3 kinase [ 10].
Each mutation activates the same three cryptic splice sites.
We demonstrated that V617F mutation activates the JAK2-STAT5 pandway, and induces cytokine-independent growth in Ba/F3 cells without expression of the erythropoietin receptor.
Therefore, the APC mutation activates the Wnt signal pathway and mediates an increase in miR-224, which may serve as a negative regulator of cell motility and metastasis.
The hypothesis is that KRAS mutation activates the RAS/MAPK signaling pathway downstream of EGFR independently of ligand binding to the receptor.
Altogether, these data suggested that the c.903+469T>C mutation activates the pseudoexon by strengthening and/or creating an ESE, which potentially could function by binding of the splicing factor SF2/ASF.
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We recently established that human fibroblasts harboring the ATPase 6 NARP mutation activated the Nrf2-dependent Phase II antioxidant pathway [24].
Furthermore, activation of receptor tyrosine kinase (RTK) signaling by either the ligand or by a mutation activating the receptor constitutively leads to EMT [ 7].
Leucine-rich repeat kinase 2 (LRRK2) is mutated in familial Parkinson's disease, and pathogenic mutations activate the kinase activity.
Mutations activating the N-RAS or B-RAF kinase components of the mitogen-activated protein kinase (MAPK) pathway are found in approximately 15% and 60% of human melanomas, respectively [ 3- 5].
Cheung, L.W. et al. Naturally occurring neomorphic PIK3R1 mutations activate the MAPK pathway, dictating therapeutic response to MAPK pathway inhibitors.
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