ROBO3 Antibody

1. In our case, we found a novel homozygous mutation p.R842* (c.2524C>T) causing a premature stop codon which is a disease-making mutation. PMID: 27267957
2. confirmed that ROBO3 increases with clinical grade and miR-383 expression is inversely correlated to that of ROBO3 PMID: 26070964
3. human AKAP79-anchored PKC selectively phosphorylates the Robo3.1 receptor subtype on serine 1330 PMID: 25882844
4. We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations). PMID: 24969490
5. Robo3.1A may prevent the Slit responsiveness by recruiting Robo1/2 into a late endosome- and lysosome-dependent degradation pathway. PMID: 24936616
6. The novel ROBO3 mutation in this family may be among the most deleterious PMID: 21592015
7. This patient had clinical and neuroimaging characteristics considered pathognomonic of horizontal gaze palsy and progressive scoliosis and yet did not have ROBO3 mutations PMID: 21510772
8. Three novel ROBO3 mutations have been identified in consanguineous patients with horizontal gaze palsy and progressive scoliosis. PMID: 21850172
9. Slit3 inhibits Robo3-induced invasion of synovial fibroblasts in rheumatoid arthritis. PMID: 20298552
10. identified mutations in the ROBO3 gene in patients affected with horizontal gaze palsy with progressive scoliosis (HGPPS);ROBO3 is required for hindbrain axon midline crossing PMID: 15105459
11. The major clinical characteristics of patients with mutated ROBO3 were horizontal gaze palsy, progressive scoliosis, and brainstem malformations. PMID: 15824346
12. Here we describe and compare two human Robo3 isoforms, Robo3A and Robo3B, which differ by the insertion of 26 amino acids at the N-terminus, and these forms appear to be evolutionary conserved PMID: 16226035
13. Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population. PMID: 16525029
14. No evidence for association between Gilles de la Tourette Syndrome and either the ROBO3 gene. Thus, this gene is unlikely to be the susceptibility genes contributing to GTS on 11q24. PMID: 17671968
15. Four SNPs of ROBO3 showed associations with autism PMID: 18270976
16. This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis. PMID: 18829051
17. This is the second reported patient with synergistic convergence and the first associated with a documented pathologic genotype. PMID: 19041479
18. mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. PMID: 15105459

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HGNC: 13433

OMIM: 607313

KEGG: hsa:64221

STRING: 9606.ENSP00000380903

UniGene: Hs.435621