Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
|
21871821 |
2012 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
|
24409384 |
2013 |
Cardio-facio-cutaneous syndrome
|
1.000 |
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 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS.
|
30414707 |
2019 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS.
|
26842671 |
2016 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.
|
17703371 |
2007 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC.
|
17567882 |
2007 |
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Neurological complications of cardio-facio-cutaneous syndrome.
|
18039235 |
2007 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tegumentary manifestations of Noonan and Noonan-related syndromes.
|
24037001 |
2013 |
Cardio-facio-cutaneous syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1, or MEK2.
|
20358587 |
2010 |
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We recently demonstrated that mice expressing a Braf Q241R mutation, which corresponds to the most frequent BRAF mutation (Q257R) in CFC syndrome, on a C57BL/6J background are embryonic/neonatal lethal, with multiple congenital defects, preventing us from analyzing the phenotypic consequences after birth.
|
26472072 |
2015 |
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This discovery provided a clue to identification of germline mutations in Kirsten-RAS (KRAS), BRAF and mitogen-activated protein kinase kinase 1 and 2 (MAP2K1/MAP2K2) in patients with CFC syndrome.
|
18470943 |
2008 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
|
19416762 |
2009 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations.
|
27569062 |
2016 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
|
22495831 |
2012 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
|
18060073 |
2007 |
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
|
25035421 |
2014 |
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |