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bicdr disease hirschsprung mutation genet hirschsprung disease protein syndrome secretory figure vesicle expression development neuron patient microtubule control transport neurite family study rab 6a anomaly scg 10 ficking interaction motor dynein zebra mouse system defect retardation kinesin enteric analysis region amiel j zebra fish kif 1c pediatr ceccherini i kiaa 1279 feature erasmus universiteit rotterdam ednrb neurite outgrowth 2010 european function npy-gfp marker localization receptor transfected secretory vesicles neurite length locus ret proto-oncogene lyonnet eng c gfp-bicdr organization hofstra genetic *** cell body distribution table pericentrosomal traf ficking membrane rab 6 hscr patients association differentiation amiel /dynactin munnich result stage
4 Most Recent Publications
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KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation
(Article)
Alves, M.M. Burzynski, G.M. Shepherd, I.T. Eggen, B.J. Hofstra, R.M. Delalande, J.M. Osinga, J. Goot, A. van der Dolga, A.M. Graaff, E. de Brooks, A.S. Metzger, M. Eisel, U.L.M. |
2010-07-09
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Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis
(Article)
Schlager, M.A. Kapitein, L.C. Hoogenraad, C.C. Grigoriev, I. Burzynski, G.M. Wulf, P. Keijzer, N. Graaff, E. de Fukuda, M. Shepherd, I.T. Akhmanova, A. |
2010-05-19
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Hirschsprung disease, associated syndromes and genetics: A review
(Article)
Amiel, J. Sproat-Emison, E. Brooks, A.S. Antinolo, G. Pontual, L. de Clement-Ziza, M. Munnich, A. Kashuk, C. West, K. Wong, K.K.Y. Lyonnet, S. Chakravarti, A. Garcia-Barcelo, M. Tam, P.K.H. Ceccherini, I. Hofstra, R.M. Fernandez, R. Lantieri, F. Burzynski, G.M. Borrego, S. Pelet, A. Arnold, S. Miao, X. Griseri, P. |
2008-01-01
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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
(Article)
Brooks, A.S. Breedveld, G.J. Meijers, C. Coo, R.F. de Oostra, B.A. Matera, I. Bertoli Avella, A.M. Burzynski, G.M. Graaff, E. de Tibboel, D. Osinga, J. Boven, L.G. Hurst, J.A. Willems, P.J. Hofstra, R.M. Mancini, G.M.S. Lequin, M.H. |
2005-01-01
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