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 |
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 |
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 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%).
|
31219622 |
2019 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We used an isogenic germline knock-in mouse model to study the effects of RIT1 mutation at the organismal level, which resulted in a phenotype resembling Noonan syndrome.
|
30872527 |
2019 |
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
MGD |
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
|
30898653 |
2019 |
NOONAN SYNDROME 8
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
|
30712878 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively.
|
29734338 |
2018 |
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 |
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 |
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 |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |
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 |
We have recently identified mutations in RIT1 in patients with NS.
|
26714497 |
2016 |
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 |
Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome.
|
25959749 |
2016 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
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 |
Biomarker
|
disease |
CLINGEN |
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, and lymphatic problems.Genet Med 18 12, 1226-1234.
|
27101134 |
2016 |
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
Noonan Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome.
|
25959749 |
2016 |
Noonan Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
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, and lymphatic problems.Genet Med 18 12, 1226-1234.
|
27101134 |
2016 |
Noonan Syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
|
26757980 |
2016 |
NOONAN SYNDROME 8
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
|
26714497 |
2016 |