|
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicated that miR-195 inhibited WT and L613V RAF-1 induced hyperactive osteoblast differentiation in MC3T3-E1 cells by targeting RAF-1. miR-195 might be a novel therapeutic agent for the treatment of L613V-induced bone deformity in Noonan syndrome.
|
29197556 |
2018 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in CRAF result in Noonan syndrome, which is characterized by neurocognitive impairment that may involve hippocampal physiology.
|
29590115 |
2018 |
|
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 |
Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.
|
28548091 |
2017 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
|
29084544 |
2017 |
|
Noonan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In Noonan syndrome and other "rasopathies" the activation of the RAS-RAF-MAPK-ERK pathway leads to inhibition of the JAK/STAT pathway.
|
26670721 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.
|
26266034 |
2015 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known.
|
26286251 |
2015 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
External ear anomalies and hearing impairment in Noonan Syndrome.
|
25862627 |
2015 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
CausalMutation
|
disease |
CLINVAR |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.
|
24782337 |
2014 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.
|
24782337 |
2014 |