Haploinsufficiency

Displaying 1 - 3 of 3CSV
Dugger, S. A., Dhindsa, R. S., Sampaio, G. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J., Ye, J., Colombo, S., Peng, Y., Yang, M., Boland, M. J., Frankel, W. N., & Goldstein, D. B. (2023). Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency. PLOS Genetics, 19(10), e1010952. https://doi.org/10.1371/journal.pgen.1010952
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Alinger, J. B., Mace, E. M., Porter, Justin. R., Mah-Som, A. Y., Daugherty, A. L., Li, S., Throm, A. A., Pingel, J. T., Saucier, N., Yao, A., Chinn, I. K., Lupski, J. R., Ehlayel, M., Keller, M., Bowman, G. R., Cooper, M. A., Orange, J. S., & French, A. R. (2024). Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. Journal of Allergy and Clinical Immunology, 153(1), 216–229. https://doi.org/10.1016/j.jaci.2023.09.002
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Rivas, M. A., Durmaz, C., Kloetgen, A., Chin, C. R., Chen, Z., Bhinder, B., Koren, A., Viny, A. D., Scharer, C. D., Boss, J. M., Elemento, O., Mason, C. E., & Melnick, A. M. (2021). Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes. Frontiers in Immunology, 12. https://doi.org/10.3389/fimmu.2021.688493
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