×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
29493581 2018
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
29084544 2017
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.
26266034 2015
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
External ear anomalies and hearing impairment in Noonan Syndrome.
25862627 2015
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
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
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
23877478 2014
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
RASSF1A inactivation unleashes a tumor suppressor/oncogene cascade with context-dependent consequences on cell cycle progression.
24732797 2014
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
23321623 2013
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
24775816 2013
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
23885229 2013
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Our results suggest that an increased heterodimerization ability is the common pathogenic mechanism for NS -associated RAF1 mutations.
22826437 2012
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
22389993 2012
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.
19933846 2010
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes.
20052757 2010
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
20683980 2010
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes.
20052757 2010
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
CausalMutation
CLINVAR
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
19953625 2010
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
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
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3.
17603486 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
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
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Common variants in WFS1 confer risk of type 2 diabetes.
17603484 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Redox regulation of peptide receptivity of major histocompatibility complex class I molecules by ERp57 and tapasin.
17603488 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer.
17603487 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
A GaN bulk crystal with improved structural quality grown by the ammonothermal method.
17603489 2007
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Noonan Syndrome
1.000
GeneticVariation
CLINVAR
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