|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Recent studies revealed that germ-line and somatic RIT1 mutations can cause Noonan syndrome (NS), and drive proliferation of lung adenocarcinomas, respectively, akin to RAS mutations in these diseases.
|
27226556 |
2016 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The usefulness of whole-exome sequencing in routine clinical practice.
|
24901346 |
2014 |
|
Noonan Syndrome
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.
|
23791108 |
2013 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.
|
23791108 |
2013 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
|
27109146 |
2016 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
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 through targeted next-generation sequencing.
|
25124994 |
2014 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To investigate how germline RIT1 mutations cause NS, we generated knock-in mice that carried a NS-associated Rit1 A57G mutation (Rit1<sup>A57G/+</sup>).
|
30898653 |
2019 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
|
24939608 |
2014 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
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 through targeted next-generation sequencing.
|
25124994 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.
|
28347726 |
2017 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome.
|
25959749 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, missense mutations in RIT1 have been reported as causative for individuals with clinical signs of NS.
|
26518681 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1.
|
31368652 |
2019 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have recently identified mutations in RIT1 in patients with NS.
|
26714497 |
2016 |
|
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic RIT1 mutations in lung adenocarcinoma.
|
24469055 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
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 through targeted next-generation sequencing.
|
25124994 |
2014 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
CLINGEN |
These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes.
|
23791108 |
2013 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Because mutations found constitutionally in Noonan syndrome are also found in several tumors in adulthood, we evaluated the potential contribution of RIT1 to leukemogenesis in Noonan syndrome.
|
26757980 |
2016 |
|
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines).
|
30024444 |
2018 |
|
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
To investigate how germline RIT1 mutations cause NS, we generated knock-in mice that carried a NS-associated Rit1 A57G mutation (Rit1<sup>A57G/+</sup>).
|
30898653 |
2019 |