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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.
Data show that Ras-like without CAAX 1 protein (RIT1) binds the RHO GTPases CDC42 and RAC1, both of which are crucial regulators of actin dynamics upstream of PAK1.
Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum
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.
Congenital left main coronary artery atresia in a Noonan syndrome is associated with RIT1 variant, leading to unrescued sudden death.
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.
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
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.
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.
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.
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.
A genotype-phenotype correlation analysis of available records indicated that germline RIT1 mutations cause a noonan syndrome phenotype characterized by a mild facial appearance.
four additional cases of Noonan syndrome with mutations in RIT1, were identified.
Data identify RIT1 as a driver oncogene in a specific subset of lung adenocarcinomas.
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
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.
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
Five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation.
the present studies identify a critical role for the Rit-p38 MAPK signaling cascade in promoting hippocampal neuron survival following oxidative stress
the Rit-p38-MSK1/2 signaling pathway may have an important role in the stress-dependent regulation of CREB-dependent gene expression.
swine UCHL3, RIT1 and CCND3 genes were differentially expressed in tissues including small intestine, large intestine, liver, muscle, fat, lung, spleen and kidney
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants.
GTP-binding protein Rit1
, GTP-binding protein Roc1
, Ric-like, expressed in many tissues
, ras-like protein expressed in many tissues
, ras-like without CAAX protein 1
, Ras-like without CAAX 1
, RAS-like protein expressed in many tissues