OBO ID: DOID:0060473

Citations

(5 total)

Term: Kabuki syndrome

Shangguan, H., Huang, X., Lin, J., Chen, R. (2024) Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway. G3 (Bethesda). 14(3):

Serrano, M.L.A., Demarest, B.L., Tone-Pah-Hote, T., Tristani-Firouzi, M., Yost, H.J. (2019) Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS Biology. 17:e3000087

Tsai, I.C., McKnight, K., McKinstry, S.U., Maynard, A.T., Tan, P.L., Golzio, C., White, C.T., Price, D.J., Davis, E.E., Amrine-Madsen, H., Katsanis, N. (2018) Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. Scientific Reports. 8:10779

Bögershausen, N., Tsai, I.C., Pohl, E., Kiper, P.Ö., Beleggia, F., Percin, E.F., Keupp, K., Matchan, A., Milz, E., Alanay, Y., Kayserili, H., Liu, Y., Banka, S., Kranz, A., Zenker, M., Wieczorek, D., Elcioglu, N., Prontera, P., Lyonnet, S., Meitinger, T., Stewart, A.F., Donnai, D., Strom, T.M., Boduroglu, K., Yigit, G., Li, Y., Katsanis, N., Wollnik, B. (2015) RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. The Journal of Clinical Investigation. 125(9):3585-99

Van Laarhoven, P.M., Neitzel, L.R., Quintana, A.M., Geiger, E.A., Zackai, E.H., Clouthier, D.E., Artinger, K.B., Ming, J.E., Shaikh, T.H. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart, and brain development. Human molecular genetics. 24(15):4443-53