|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenotypic presentation that mimicked some aspects of NS and that this was dependent upon activation of the ERK1/2 pathway.
|
19706403 |
2009 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
rs121918466
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.
|
17641779 |
2007 |
|
rs121918466
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.
|
17641779 |
2007 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2.
|
16166557 |
2005 |
|
rs121918466
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.
|
16166557 |
2005 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
|
15240615 |
2004 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
|
12634870 |
2003 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |