|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.
|
15723289 |
2005 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.
|
15723289 |
2005 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene.
|
20383758 |
2010 |
|
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 |
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 |
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 |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
rs121918466
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
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
|
|
G |
0.730 |
CausalMutation |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
|
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 |
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
|
|
|
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 |
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
|
12529711 |
2003 |
|
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 |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
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 |
|
rs121918459
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
MAPK activation in mature cataract associated with Noonan syndrome.
|
24219368 |
2013 |
|
rs121918459
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
|
rs121918459
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.
|
22711529 |
2012 |
|
rs121918459
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.
|
16498234 |
2006 |
|
rs121918459
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
We herein report a large family demonstrating NS caused by one of the common PTPN11 mutations, c.188 A > G (Y63C).
|
16498234 |
2006 |
|
rs121918459
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.
|
22711529 |
2012 |
|
rs121918459
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |