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 |
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 |
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 |
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 |
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 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present two boys with Noonan syndrome and the identical de novo RAF1 missense variant c.1082G>C/p.
|
29271604 |
2018 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that duplications of genomic regions encompassing RAF1 could cause NS and are consistent with the notion that rare copy number variations encompassing causative genes may underlie a small percentage of patients with syndromic CHD like NS.
|
22786616 |
2012 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2).
|
23786871 |
2013 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations.
|
30417923 |
2019 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with mutations identified in PTPN11 (n = 90), SOS1 (n = 14), RAF1 (n = 10), KRAS (n = 8), BRAF (n = 11), and SHOC2 (n = 4) genes.
|
22887833 |
2012 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated mice with endothelial-specific, inducible expression of an RAF1 gene with a gain-of-function mutation (RAF1(S259A)) that is associated with Noonan syndrome.
|
23391722 |
2013 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling.
|
20679480 |
2010 |
Noonan Syndrome
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, the results of our study identify the molecular mechanisms by which NS RAF1 mutations cause HCM and reveal downstream effectors that could serve as therapeutic targets for treatment of NS and perhaps other, more common, congenital HCM disorders.
|
31163979 |
2019 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or downstream signal transducers (RAF1) are causative for NS.
|
20673819 |
2011 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1.
|
20461756 |
2010 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, KRAS, and RAF1 typically cause NS.
|
20186801 |
2010 |