Publications

Research Publications for SETBP1-HD

4714534 DZWV2TAQ items 1 apa 5 dateModified date_modified 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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Wang, L., Wang, X., & Yang, B. (2023). Novel SETBP1 mutation in a chinese family with intellectual disability. 16(1), 233. https://doi.org/10.1186/s12920-023-01649-x

Jansen, N. A., Braden, R. O., Srivastava, S., Otness, E. F., Lesca, G., Rossi, M., Nizon, M., Bernier, R. A., Quelin, C., van Haeringen, A., Kleefstra, T., Wong, M. M. K., Whalen, S., Fisher, S. E., Morgan, A. T., & van Bon, B. W. (2021). Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics, 29, 1198–1205.

Morgan, A., Braden, R., Wong, M. M. K., Collin, E., Amor, D., Liegeois, F., Srivastava, S., Vogel, A., Bizaoui, V., Ranguin, K., Fisher, S. E., & van Bon, B. W. (2021). Speech and language deﬁcits are central to SETBP1 haploinsufﬁciency disorder (SETBP1-HD). European Journal of Human Genetics, 29(29), 1216–1225. https://doi.org/10.1038/s41431-021-00894-x

Wong, M. M., Kampen, R. A., Braden, R. O., Alagöz, G., Hildebrand, M. S., Barnett, C., Barnett, M., Brusco, A., & Fisher, S. F. (n.d.). SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder. https://doi.org/10.1101/2022.03.04.22271462

Meziane, H., Birling, M., Wendling, O., & Herault, Y. (2022). Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines, 10(12), 3148.

Research Publications for SETBP1 gene

4714534 I9JAG8NK items 1 apa 5 default date_modified 1 title 778 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

Antonyan, L., & Ernst, C. (2022). Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Frontiers in Neuroscience, 16(813430).

Kohyanagi, N., & Ohama, T. (2023). The impact of SETBP1 mutations in neurological diseases and cancer. Genes to Cells.

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.

Research Publications for Schinzel-Giedion Syndrome (SGS)

4714534 93ZFM8JM items 1 apa 5 default date_modified 1 title 778 https://www.setbp1.org/wp-content/plugins/zotpress/

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Whitlock, J., Soelter, T., Howton, T., Wilk, E., Oza, V., & Lasseigne, B. (2023). Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice. 27(22), 3565–3577. https://doi.org/10.1111/jcmm.18001

Carvalho, E., Honjo, R., Magalha˜es, M., Chong, K., & Bertol, D. (2014). Schinzel–Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features. American Journal of Medical Genetics, Part A(167A), 1039–1046.

Antonyan, L., & Ernst, C. (2022). Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development. Front Neurosci, 16:813430(813430).

Banfi, F., Rubio, A., Zaghi, M., Massimino, L., Piazza, R., Mologni, L., Broccoli, V., & Sessa, A. (2021). SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome. Nature Communications, 12(4050). https://doi.org/https://doi.org/10.1038/s41467-021-24391-3

Herenger, Y., Stoetzel, C., Schaefer, E., Scheidecker, S., Manière, M. C., Pelletier, V., & Dollfus, H. (2015). Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. European Journal of Medical Genetics, 58(9), 479–487.

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Research Publications for SETBP1-related cancer (not associated with SETBP1-HD)

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Piazza, R., Magistroni, V., Redaelli, S., Mauri, M., Massimino, L., Sessa, A., Peronaci, M., Lalowski, M., Soliymani, R., Mezzatesta, C., Pirola, A., Banfi, F., Rubio, A., Rea, D., Stagno, F., Usala, E., Martino, B., Campiotti, L., Merli, M., … Gambacorti-Passerini, C. (2018). SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. Nature Communications, 9(2192).

Stieglitz, E., Troup, C. B., Gelston, L. C., Haliburton, J., Chow, E. D., Yu, K. B., Akutagawa, J., Taylor-Weiner, A. N., Liu, Y. L., Wang, Y., Beckman, K., Emanuel, P. D., Braun, B. S., Abate, A., Gerbing, R. B., Alonzo, T. A., & Loh, M. L. (2015). Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. Blood, 125(3), 516–524.

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