Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The aim of this study was to assess the correlation between phenotype and genotype by molecular analysis of the PTPN11, SOS1, KRAS, and RAF1 genes in 59 Korean patients with NS.
|
19020799 |
2008 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Our results suggest that an increased heterodimerization ability is the common pathogenic mechanism for NS-associated RAF1 mutations.
|
22826437 |
2012 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.
|
23613113 |
2013 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function.
|
17603482 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Downgrading of arts-centered education in state schools.
|
1760348 |
1992 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
Noonan Syndrome
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes.
|
19568997 |
2008 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.
|
19933846 |
2010 |
Noonan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
|
30348783 |
2018 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Protein kinase and protein phosphatase expression in the central nervous system of G93A mSOD over-expressing mice.
|
12675918 |
2003 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3.
|
17603486 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These two cases suggest that abnormal activation of the Ras/MAPK pathway may play a significant role in the development of pulmonary vascular disease in the subset of patients with Noonan syndrome and a specific RAF1 mutation.
|
25706034 |
2015 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations.
|
29084544 |
2017 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome.
|
20052757 |
2010 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The aim of this study was to assess the correlation between phenotype and genotype by molecular analysis of the PTPN11, SOS1, KRAS, and RAF1 genes in 59 Korean patients with NS.
|
19020799 |
2008 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.
|
17603483 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RASSF1A inactivation unleashes a tumor suppressor/oncogene cascade with context-dependent consequences on cell cycle progression.
|
24732797 |
2014 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to assess the correlation between phenotype and genotype by molecular analysis of the PTPN11, SOS1, KRAS, and RAF1 genes in 59 Korean patients with NS.
|
19020799 |
2008 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.
|
28548091 |
2017 |