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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 (show MAPK1 Proteins)/MEK (show MAP2K1 Proteins)-ERK (show EPHB2 Proteins) signaling. The mutant RIT1 protein may possess reduced GTPase (show RACGAP1 Proteins) activity or a diminished ability to interact with cellular GTPase (show RACGAP1 Proteins) 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.
swine UCHL3 (show Uchl3 Proteins), RIT1 and CCND3 (show CCND3 Proteins) genes were differentially expressed in tissues including small intestine, large intestine, liver, muscle, fat, lung, spleen and kidney
In adult hippocampal neuronal precursor cells, RIT1 controls an Akt (show AKT1 Proteins)-dependent signaling cascade, resulting in the stabilization and transcriptional activation of phosphorylated Sox2 (show SOX2 Proteins). This study supports a role for RIT1 in relaying niche-derived signals to neural/stem progenitor cells to control transcription of genes involved in self-renewal and differentiation
the Rit-p38 (show CRK Proteins)-MSK1 (show RPS6KA5 Proteins)/2 signaling pathway may have an important role in the stress-dependent regulation of CREB (show CREB1 Proteins)-dependent gene expression.
these data identify a new and unexpected role for Rit in injury-induced neurogenesis, functioning as a selective survival mechanism for immature hippocampal neurons within the subgranular zone of the dentate gyrus following TBI.
our studies establish the Rit GTPases as critical regulators of an evolutionarily conserved, p38 MAPK (show MAPK14 Proteins)-dependent signaling cascade
Rin (show RIT2 Proteins) and Rit Bind to PAR6 (show PARD6A Proteins) GTP (show AK3 Proteins)-dependently and regulate cell transformation
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