Human Disease model utilizes zf195Tg (AB)
RNA Expression
Protein Expression
Reporter Gene Expression
- Qiu, Y., Arbogast, T., Lorenzo, S.M., Li, H., Tang, S.C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., Corsello, C., Deutsch, C.K., Chevalier, C., Davis, E.E., Iakoucheva, L.M., Herault, Y., Katsanis, N., Messer, K., Sebat, J. (2019) Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports. 28:3320-3328.e4
- Hutson, M.R., Keyte, A.L., Hernández-Morales, M., Gibbs, E., Kupchinsky, Z.A., Argyridis, I., Erwin, K.N., Pegram, K., Kneifel, M., Rosenberg, P.B., Matak, P., Xie, L., Grandl, J., Davis, E.E., Katsanis, N., Liu, C., Benner, E.J. (2017) Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects. Science signaling. 10(500)
- Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., García-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Mühlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., van Heyningen, V., Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49(2):238-248
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