|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
|
17468812 |
2007 |
|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
|
19396835 |
2009 |
|
NOONAN SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
|
Noonan Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
Noonan syndrome-associated mutations V14I and T58I K-Ras activate Ras but have milder biochemical effects than somatic mutations encountered in cancers, offering an explanation why these K-Ras lesions are tolerated during embryonic development.
|
17211612 |
2007 |
|
Noonan Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.
|
27174785 |
2016 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
In fact, we have observed that the K-Ras(V14I) mutation is capable of cooperating with the p16Ink4a/p19Arf and Trp53 tumour suppressors, as well as with other risk factors such as pancreatitis, thereby leading to a higher cancer incidence.
|
27174785 |
2016 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
In fact, we have observed that the K-Ras(V14I) mutation is capable of cooperating with the p16Ink4a/p19Arf and Trp53 tumour suppressors, as well as with other risk factors such as pancreatitis, thereby leading to a higher cancer incidence.
|
27174785 |
2016 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The K-Ras(V14I) mutation is a mild activating K-Ras protein; thus, we have used this model to study tumour susceptibility in comparison with mice expressing the classical K-Ras(G12V) oncogene.
|
27174785 |
2016 |
|
Chronic myeloproliferative disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have previously developed and characterized a knock-in mouse model that carries one of the most frequent KRAS-NS-related mutations, the K-Ras(V14I) substitution, which recapitulates most of the alterations described in NS patients, including MPDs.
|
27174785 |
2016 |
|
Primary Lesion
|
|
0.010 |
GeneticVariation
|
BEFREE |
The progression-free survival of the primary lesion with KRAS V14I and RBM10 E119D mutations (10 months) was shorter than that of the brain without the mutation ( ≥ 12 months).
|
31305298 |
2019 |
|
Pancreatitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In fact, we have observed that the K-Ras(V14I) mutation is capable of cooperating with the p16Ink4a/p19Arf and Trp53 tumour suppressors, as well as with other risk factors such as pancreatitis, thereby leading to a higher cancer incidence.
|
27174785 |
2016 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
|
16987887 |
2006 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues.
|
21686179 |
2011 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
|
23885229 |
2013 |
|
NOONAN SYNDROME 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
K-RasV14I recapitulates Noonan syndrome in mice.
|
25359213 |
2014 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
Noonan Syndrome
|
|
0.720 |
CausalMutation
|
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
|
|
0.720 |
CausalMutation
|
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |