|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly(12) promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades.
|
25367099 |
2015 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
|
25668678 |
2015 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.
|
3004741 |
1986 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a gain of function Rasopathy caused by heterozygous activating mutations in the HRAS gene.
|
28856719 |
2017 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A de novo heterozygous HRAS change was detected in all the subjects diagnosed with CS, while no lesion was observed with any of the other phenotypes.
|
17054105 |
2007 |
|
Costello syndrome (disorder)
|
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 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional specificity of ras isoforms: so similar but so different.
|
21779495 |
2011 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.
|
17412879 |
2007 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because of its particular cancer risk, the term "Costello syndrome" should only be used for patients with proven HRAS mutation.
|
17704260 |
2007 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome.
|
26888048 |
2016 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.
|
17412879 |
2007 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here on a female with findings suggestive of CS in whom mutation analysis performed with standard techniques on white blood cell derived DNA did not show an HRAS mutation.
|
16969868 |
2006 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These "giant" spindles were not associated with any evidence of structural damage of the cortex or the thalami and should be considered as phenotypic feature of sleep EEG activity in Costello syndrome because of HRAS mutation.
|
21633259 |
2011 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS.
|
16443854 |
2006 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome.
|
29254681 |
2018 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The ras gene family and human carcinogenesis.
|
3283542 |
1988 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
|
17164262 |
2007 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy.
|
27589201 |
2016 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases.
|
28371260 |
2017 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses.
|
6288698 |
1982 |
|
Costello syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |