The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Editor

Share

Personal info

View

Links

  • Homologues
  • NCBI Gene
  • NCBI SNP
  • iHOP resource
  • OMIM
  • SNPedia
  • UniProt
  • Ensembl
  • HGNC

Table of contents

About

Terms

 

Gene Review: 

ROBO3  -  roundabout, axon guidance receptor,...

Homo sapiens

Synonyms: FLJ21044, HGPPS, HGPS, RBIG1, RIG1, ...
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of ROBO3

  • Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3 [1].
 

Psychiatry related information on ROBO3

 

High impact information on ROBO3

  • Robo3 is a member of the roundabout (Robo) family of proteins that plays a key role in axon guidance and cell migration in the developing nervous system [3].
  • Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis [4].
  • Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing [2].
  • Horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla [5].
  • CONCLUSIONS: Our patients with the ROBO3 E319Kappa mutation show normal perceptual and cognitive functions and have both crossed and uncrossed motor, sensory and auditory pathways [2].
 

Biological context of ROBO3

  • OBJECTIVE: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems [1].
  • The mother of one of the children also had scoliosis DNA was extracted from a blood sample from each participant using a standard protocol, and the coding exons of ROBO3 were amplified and sequenced as previously described [6].
 

Other interactions of ROBO3

  • In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse [7].

References

  1. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Bosley, T.M., Salih, M.A., Jen, J.C., Lin, D.D., Oystreck, D., Abu-Amero, K.K., MacDonald, D.B., al Zayed, Z., al Dhalaan, H., Kansu, T., Stigsby, B., Baloh, R.W. Neurology (2005) [Pubmed]
  2. Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. Amoiridis, G., Tzagournissakis, M., Christodoulou, P., Karampekios, S., Latsoudis, H., Panou, T., Simos, P., Plaitakis, A. J. Neurol. Neurosurg. Psychiatr. (2006) [Pubmed]
  3. Evidence for the existence of two Robo3 isoforms with divergent biochemical properties. Camurri, L., Mambetisaeva, E., Davies, D., Parnavelas, J., Sundaresan, V., Andrews, W. Mol. Cell. Neurosci. (2005) [Pubmed]
  4. Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis. MacDonald, J.T. J. Child Neurol. (2006) [Pubmed]
  5. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Sicotte, N.L., Salamon, G., Shattuck, D.W., Hageman, N., Rüb, U., Salamon, N., Drain, A.E., Demer, J.L., Engle, E.C., Alger, J.R., Baloh, R.W., Deller, T., Jen, J.C. Neurology (2006) [Pubmed]
  6. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Chan, W.M., Traboulsi, E.I., Arthur, B., Friedman, N., Andrews, C., Engle, E.C. J. Med. Genet. (2006) [Pubmed]
  7. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Jen, J.C., Chan, W.M., Bosley, T.M., Wan, J., Carr, J.R., Rüb, U., Shattuck, D., Salamon, G., Kudo, L.C., Ou, J., Lin, D.D., Salih, M.A., Kansu, T., Al Dhalaan, H., Al Zayed, Z., MacDonald, D.B., Stigsby, B., Plaitakis, A., Dretakis, E.K., Gottlob, I., Pieh, C., Traboulsi, E.I., Wang, Q., Wang, L., Andrews, C., Yamada, K., Demer, J.L., Karim, S., Alger, J.R., Geschwind, D.H., Deller, T., Sicotte, N.L., Nelson, S.F., Baloh, R.W., Engle, E.C. Science (2004) [Pubmed]
Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
 
WikiGenes - Universities