Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
RNA-sequencing reveals genes with abnormal expression in RAF1 mutant iPSC-derived cardiomyocytes and identifies subsets of genes dysregulated by aberrant MEK1/2 or ERK5 pathways that could contribute to the NS-associated HCM.
|
31163979 |
2019 |
Noonan Syndrome
|
0.680 |
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
|
0.680 |
Biomarker
|
disease |
CLINGEN |
Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome.
|
27862862 |
2017 |
Noonan Syndrome
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome.
|
27862862 |
2017 |
Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
CLINGEN |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
BEFREE |
Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis.
|
25049390 |
2014 |
Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
CLINGEN |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
Noonan Syndrome
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic MAP2K1 mutations in human epithelial tumors.
|
22327936 |
2012 |
Noonan Syndrome
|
0.680 |
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
|
0.680 |
Biomarker
|
disease |
BEFREE |
In conclusion, the present results exclude copy number variation of PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1 and MEK2 as a common pathogenic mechanism of NS.
|
20302979 |
2010 |
Noonan Syndrome
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas.
|
19411838 |
2009 |
Noonan Syndrome
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
|
18060073 |
2007 |
Noonan Syndrome
|
0.680 |
Biomarker
|
disease |
CLINGEN |
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
|
0.680 |
GeneticVariation
|
disease |
LHGDN |
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
|
0.680 |
Biomarker
|
disease |
CTD_human |
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
|
17703371 |
2007 |
Noonan Syndrome
|
0.680 |
CausalMutation
|
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
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |
Noonan Syndrome
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|