×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
20658932 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
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
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.
3004741 1986
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
20979192 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Functional specificity of ras isoforms: so similar but so different.
21779495 2011
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
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
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.
2105486 1990
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
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
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Enhanced human brain associative plasticity in Costello syndrome.
20660566 2010
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
19206176 2009
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
28027064 2017
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
These results confirm that CS is caused, in most cases, by heterozygous missense mutations in the proto-oncogene HRAS .
16443854 2006
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Other less common lesions in HRAS can induce a milder phenotype on the one hand and a more severe phenotype on the other broadening the spectrum of clinical manifestations in CS -affected individuals.
22926243 2012
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.
17979197 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Five different HRAS mutations have now been reported in Costello syndrome , however genotype-phenotype correlation remains incomplete.
16329078 2006
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928 2012
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
27589201 2016
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
The ras gene family and human carcinogenesis.
3283542 1988
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
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
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Partially correlated thin annular sources: the scalar case.
18978862 2008
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
GeneticVariation
CLINVAR
ras genes.
3304147 1987
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
16921267 2006
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
24224811 2013
×
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
Costello syndrome (disorder)
1.000
CausalMutation
CLINVAR
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
16881968 2006