|
|
|
|
Sanchez, E., Laplace-Builhé, B., Mau-Them, F.T., Richard, E., Goldenberg, A., Toler, T.L., Guignard, T., Gatinois, V., Vincent, M., Blanchet, C., Boland, A., Bihoreau, M.T., Deleuze, J.F., Olaso, R., Nephi, W., Lüdecke, H.J., Verheij, J.B.G.M., Moreau-Lenoir, F., Denoyelle, F., Rivière, J.B., Laplanche, J.L., Willing, M., Captier, G., Apparailly, F., Wieczorek, D., Collet, C., Djouad, F., Geneviève, D. (2019) POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genetics in medicine : official journal of the American College of Medical Genetics. 22(3):547-556
|
Calo, E., Gu, B., Bowen, M.E., Aryan, F., Zalc, A., Liang, J., Flynn, R.A., Swigut, T., Chang, H.Y., Attardi, L.D., Wysocka, J. (2018) Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. Nature. 554:112-117
|
Kwong, E.M.L., Ho, J.C.H., Lau, M.C.C., You, M.S., Jiang, Y.J., Tse, W.K.F. (2017) Restoration of polr1c in early embryogenesis rescues the Type 3 Treacher Collins Syndrome facial malformation phenotype in zebrafish. The American journal of pathology. 188(2):336-342
|
Lei, L., Yan, S.Y., Yang, R., Chen, J.Y., Li, Y., Bu, Y., Chang, N., Zhou, Q., Zhu, X., Li, C.Y., Xiong, J.W. (2017) Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors. Nucleic acids research. 45(6):3422-3436
|
de Peralta, M.S., Mouguelar, V.S., Sdrigotti, M.A., Ishiy, F.A., Fanganiello, R.D., Passos-Bueno, M.R., Coux, G., Calcaterra, N.B. (2016) Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. Cell Death & Disease. 7:e2397
|
Lau, M.C., Kwong, E.M., Lai, K.P., Li, J.W., Ho, J.C., Chan, T.F., Wong, C.K., Jiang, Y.J., Tse, W.K. (2016) Pathogenesis of POLR1C-dependent type 3 treacher Collins syndrome revealed by a zebrafish model. Biochimica et biophysica acta. Molecular basis of disease. 1862(6):1147-58
|
|
|
|
|
