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
|
|
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
|
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
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