Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome).
|
21871821 |
2012 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We screened GCTBs for mutations in PTPN11 and BRAF to determine whether GCTBs develop through alterations of genes involved in Noonan syndrome.MSC were isolated from 10 GCTBs.
|
22725657 |
2013 |
Noonan Syndrome
|
0.770 |
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
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS.
|
31125963 |
2019 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.
|
12692057 |
2003 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
|
17704260 |
2007 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features.
|
29084544 |
2017 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
|
17366577 |
2007 |
Noonan Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
|
18060073 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
We thus suggest involvement of BRAF in the pathogenesis of NS also.
|
18456719 |
2008 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
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
|
0.770 |
Biomarker
|
disease |
BEFREE |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
|
17703371 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC.
|
18456719 |
2008 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Noonan Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
|
24451042 |
2014 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
|
19376813 |
2009 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
|
22892241 |
2012 |
Noonan Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |