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ROBO3 is a developmental gene that functions to guide axons across the midline of the developing brainstem and spinal cord. During fetal development, axons, the tails of neurons, must travel long distances to connect precisely with their target - another neuron or muscle. Some axons must cross the midline during their travels, and others must not. Therefore our studies of HGPPS provided insight into a very basic and poorly understood aspect of human brain development.
References
Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor, Johns Hopkins University, creation date 11/12/2003 (entry number *608630). Home page: http://www3.ncbi.nlm.nih.gov/Omim/.
1. Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rub U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 4;304(5676):1509-13. Epub 2004 Apr 22.
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