Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Probing the role of loop 2 in Ras function with unnatural amino acids.
|
8234268 |
1993 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction.
|
8246952 |
1993 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Concurrent mutations of K-ras oncogene at codons 12 and 22 in colon cancer.
|
12110640 |
2002 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
|
14982869 |
2004 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras.
|
16474405 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras.
|
16474405 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras.
|
16474405 |
2006 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras.
|
16474405 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras.
|
16474405 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
Noonan Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
|
16921267 |
2006 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The discovery of KRAS missense mutation as a minor cause of Noonan syndrome and the pathogenetic mechanisms of those mutants is discussed.
|
16987887 |
2006 |
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We further defined the phenotypic spectrum associated with KRAS missense mutations and provided the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 or MEK1 alteration, respectively.
|
17056636 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
17056636 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Increased RAS-mitogen-activated protein kinase (MAPK) signaling due to PTPN11 and KRAS mutations causes 50% of cases of Noonan syndrome.
|
17143282 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KRAS mutations account for <5% of cases of Noonan syndrome, but the gene(s) responsible for the remainder are unknown.
|
17143285 |
2007 |
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS.
|
17222357 |
2007 |