Gain of Function Mutation

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Shore, A. N., Li, K., Safari, M., Qunies, A. M., Spitznagel, B. D., Weaver, C. D., Emmitte, K., Frankel, W., & Weston, M. C. (2024). Heterozygous expression of a Kcnt1 gain-of-function variant has differential effects on somatostatin- and parvalbumin-expressing cortical GABAergic neurons. ELife, 13. CLOCKSS. https://doi.org/10.7554/elife.92915
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Prapa, M., Lago-Docampo, M., Swietlik, E. M., Montani, D., Eyries, M., Humbert, M., Welch, C. L., Chung, W. K., Berger, R. M. F., Bogaard, H. J., Danhaive, O., Escribano-Subías, P., Gall, H., Girerd, B., Hernandez-Gonzalez, I., Holden, S., Hunt, D., Jansen, S. M. A., … Kerstjens-Frederikse, W. (2022). First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American Journal of Respiratory and Critical Care Medicine, 206(12), 1522–1533. https://doi.org/10.1164/rccm.202203-0485oc
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Hoshino, A., Boutboul, D., Zhang, Y., Kuehn, H. S., Hadjadj, J., Özdemir, N., Celkan, T., Walz, C., Picard, C., Lenoir, C., Mahlaoui, N., Klein, C., Peng, X., Azar, A., Reigh, E., Cheminant, M., Fischer, A., Rieux-Laucat, F., Callebaut, I., … Latour, S. (2022). Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. Science Immunology, 7(69). https://doi.org/10.1126/sciimmunol.abi7160
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