Research Publications for SETBP1 gene
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https://www.setbp1.org/wp-content/plugins/zotpress/
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Whitlock, J., Wilk, E., Howton, T., Clark, A., & Lasseigne, B. (2024). The landscape of SETBP1 gene expression and transcription factor activity across human tissues. 19(1), e0296328. https://doi.org/10.1371/journal.pone.0296328
Kohyanagi, N., & Ohama, T. (2023). The impact of SETBP1 mutations in neurological diseases and cancer. Genes to Cells.
Antonyan, L., & Ernst, C. (2022). Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Frontiers in Neuroscience, 16(813430).
Rakhlin, N., Landi, N., Lee, M., Magnuson, J. S., Naumova, O. Y., Ovchinnikova, I. V., & Grigorenko, E. L. (2020). Cohesion of Cortical Language Networks During Word Processing Is Predicted by a Common Polymorphism in the SETBP1 Gene. New Directions for Child and Adolescent Development, 2020(169).
Perdue, M. V., SaraMascheretti, S., Sergey A.Kornilov, S. A. K., Jasińska, K. K., Ryherd, K., Mencl, W. E., Frost, S. J., Grigorenko, E. L., Pugh, K. R., & Landi, N. (2018). Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation. Neuropsychologia.
Coccaro, N., Tota, G., Zagaria, A., Anelli, L., Specchia, G., & Albano, F. (2017). SETBP1 dysregulation in congenital disorders and myeloid neoplasms. Oncotarget, 8(31), 51920–51935.
Huang, C. T. L., Tao, Y., Lu, J., Fowler, L., Weick, J. P., & Zhang, S. C. (2016). Time-Course Gene Expression Profiling Reveals a Novel Role of Non-Canonical WNT Signaling During Neural Induction. Scientific Reports, 6(32600).
Sullivan, J. M., Badimon, A., Schaefer, U., Ayata, P., Gray, J., Chung, C. W., von Schimmelmann, M., Zhang, F., Garton, N., Smithers, N., Lewis, H., Tarakhovsky, A., Prinjha, R. K., & Schaefer, A. (2015). Autism-like syndrome is induced by pharmacological suppression of BET proteins in young mice. Journal of Experimental Medicine, 212(11), 1771.