RIT1 Antibody, FITC conjugated

1. The functional assessment supported the pathogenicity of the RAF1 and RIT1 variants of unknown significance (VUSs), while the significance of two VUSs in A2ML1 remained unclear. PMID: 29402968
2. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum PMID: 27109146
3. RIT1 is one of the major genes for NS. The RIT1-associated phenotype differs gradually from other NS subtypes, with a high prevalence of cardiovascular manifestations, especially hypertrophic cardiomyopathy. PMID: 27101134
4. Congenital left main coronary artery atresia in a Noonan syndrome is associated with RIT1 variant, leading to unrescued sudden death. PMID: 28347726
5. Noonan patients with germline RIT1 mutations are not at high risk to developing JMML or ALL, and that RIT1 has at most a marginal role in these sporadic malignancies. PMID: 26757980
6. Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). PMID: 27226556
7. We report on a 2.5-year-old male patient with clinical signs of NS and hematologic abnormalities, in whom a novel heterozygous substitution in RIT1 with probable pathogenicity was detected. PMID: 26518681
8. Mutations in RIT1 cause Noonan syndrome. Mutations in RIT1 affect RAS-MAPK/MEK-ERK signaling. The mutant RIT1 protein may possess reduced GTPase activity or a diminished ability to interact with cellular GTPase activating proteins. PMID: 25959749
9. elevated expression of RIT1 may contribute to the progression of endometrial cancer and thus may serve as a novel prognostic marker and a promising molecular target for the treatment of endometrial cancer. PMID: 26617739
10. Because of the relatively high frequency of mutations in RIT1 among patients with NS and its occurrence in different populations, we suggest that it should be added to the list of genes included in panels for the molecular diagnosis of NS. PMID: 25124994
11. A genotype-phenotype correlation analysis of available records indicated that germline RIT1 mutations cause a noonan syndrome phenotype characterized by a mild facial appearance. PMID: 26714497
12. four additional cases of Noonan syndrome with mutations in RIT1, were identified. PMID: 24939608
13. Data identify RIT1 as a driver oncogene in a specific subset of lung adenocarcinomas. PMID: 24469055
14. we highlight recent studies using transgenic and knockout animal models which have begun to elucidate the physiological roles for the Rit subfamily, including emerging roles in the regulation of neuronal morphology and cellular survival signaling PMID: 23770287
15. ROC1 knockdown remarkably inhibited bladder cancer cell growth, arrested cells at the G2 phase of the cell cycle, and induced the p53-dependent cell senescence. PMID: 23667514
16. study demonstrates that RIT1 abnormalities, including activating mutations and locus amplifications, are novel lesions in a subgroup of patients with myeloid neoplasms, particularly frequent in chronic myelomonocytic leukemia PMID: 23765226
17. Five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation. PMID: 23791108
18. the present studies identify a critical role for the Rit-p38 MAPK signaling cascade in promoting hippocampal neuron survival following oxidative stress PMID: 23123784
19. the Rit-p38-MSK1/2 signaling pathway may have an important role in the stress-dependent regulation of CREB-dependent gene expression. PMID: 23038261
20. the studies establish Rit as a central regulator of a p38 MAPK-dependent signaling cascade that functions as a critical cellular survival mechanism in response to stress PMID: 21444726
21. Rit plays a key role in human neuronal development and regeneration through activating both known and as yet undefined signaling pathways PMID: 12668729
22. Gene amplification is one of the main activating ways of RIT1 gene in hepatocellular carcinoma (HCC), and its amplification might be correlated with HCC carcinogenesis, while point mutation might be not. PMID: 14767908

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HGNC: 10023

OMIM: 609591

KEGG: hsa:6016

STRING: 9606.ENSP00000357306

UniGene: Hs.491234