OBO ID: DOID:0050569

Citations

(5 total)

Term: Seckel syndrome

Yu, K.W., She, Z.Y., Wei, Y.L., Zhong, N. (2020) Kinesin-7 CENP-E regulates cell division, gastrulation and organogenesis in development. European journal of cell biology. 99:151107

Hung, C.Y., Volkmar, B., Baker, J.D., Bauer, J.W., Gussoni, E., Hainzl, S., Klausegger, A., Lorenzo, J., Mihalek, I., Rittinger, O., Tekin, M., Dallman, J.E., Bodamer, O.A. (2017) A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 12:e0189324

Stiff, T., Casar Tena, T., O'Driscoll, M., Jeggo, P.A., Philipp, M. (2016) ATR promotes cilia signalling; links to developmental impacts. Human molecular genetics. 25(8):1574-87

Rapchak, C.E., Patel, N., Hudson, J., Crawford, M. (2015) Developmental role of plk4 in Xenopus laevis and Danio rerio: implications for Seckel Syndrome. Biochemistry and cell biology = Biochimie et biologie cellulaire. 93(4):396-404

Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L.S., Leitch, A., Nürnberg, G., Toliat, M.R., Murray, J.E., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Keith, C., Harley, M.E., Heyn, P., Müller, R., Hoffmann, I., Daire, V.C., Dollfus, H., Dupuis, L., Bashamboo, A., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A.T., Saggar, A., Schlechter, C., Weleber, R., Thiele, H., Altmüller, J., Höhne, W., Hurles, M.E., Noegel, A.A., Baig, S.M., Nürnberg, P., Jackson, A.P. (2014) Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genetics. 46:1283-92