|
Cardio-facio-cutaneous syndrome
|
1.000 |
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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, despite reduced levels of MEK1 protein and the lower abundance of MEK1 Y130C protein than wild type, <i>Mek1</i><sup>Y130C</sup> mutants showed increased ERK (MAPK) protein activation in response to growth factors, supporting a role for MEK1 Y130C in hyperactivation of the RAS/MAPK pathway, leading to CFC.
|
29590634 |
2018 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CFC is associated with mutations in BRAF, KRAS, MEK1 and MEK2.
|
29704308 |
2018 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
|
29461977 |
2018 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome.
|
27862862 |
2017 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In vivo severity ranking of Ras pathway mutations associated with developmental disorders.
|
28049852 |
2017 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G) in MAP2K1, a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS).
|
25423878 |
2015 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.
|
24637312 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
|
25049390 |
2014 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.
|
23569304 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germline mutations in HRAS have been identified in patients with Costello syndrome and mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome.
|
23250860 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.
|
24236184 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic MAP2K1 mutations in human epithelial tumors.
|
22327936 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
|
22848035 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome.
|
20523244 |
2011 |
|
Cardio-facio-cutaneous 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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the laboratory protocols and methods that we used to identify mutations in BRAF and MEK1/2 genes as causative for CFC syndrome.
|
20812000 |
2010 |