|
rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
26286251 |
2015 |
|
rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
|
23446178 |
2013 |
|
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
|
|
|
0.740 |
GeneticVariation |
BEFREE |
A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.
|
15539800 |
2004 |
|
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
|
|
|
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
|
|
|
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 |
|
rs28933386
|
|
|
0.720 |
GeneticVariation |
BEFREE |
One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein.
|
30304563 |
2019 |
|
rs121918461
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS.
|
29125030 |
2018 |
|
rs397507539
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome.
|
30541462 |
2018 |
|
rs28933386
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome.
|
29214238 |
2017 |
|
rs397507539
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively.
|
24891296 |
2014 |
|
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 |
|
rs121918461
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432.
|
19927903 |
2009 |
|
rs121918459
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.
|
16498234 |
2006 |
|
rs397507545
|
|
|
0.710 |
GeneticVariation |
BEFREE |
These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases.
|
29703613 |
2019 |
|
rs121918455
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In the second family, the couple had undergone several unsuccessful pregnancies where a de novo mutation PTPN11 c.923A>C causing Noonan syndrome was identified.
|
28921562 |
2017 |
|
rs397507541
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively.
|
24891296 |
2014 |
|
rs121918460
|
|
|
0.710 |
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 |
|
rs121918463
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The patient heterozygous for c.854T>C had Noonan syndrome.
|
21901340 |
2012 |
|
rs397507520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
|
22315187 |
2012 |
|
rs397507509
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome.
|
18328949 |
2008 |
|
rs121918453
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
|
rs121918454
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
|
rs397507514
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |