|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Shp2 is a classical non-receptor protein tyrosine phosphatase (PTP) involved in many human diseases such as Noonan syndrome and tumors, and identified as a potential therapeutic target.
|
27939989 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutation accounts for 64.7% of cases with clinical features of Noonan syndrome in India.
|
28607217 |
2017 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysregulation of ERK signaling is known to be responsible for the cognitive deficits associated with gain-of-function mutated Shp2 mimicking Noonan syndrome.
|
27796759 |
2017 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus.He developed epilepsy 2 years later.
|
28328117 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mice carrying the Noonan syndrome-associated gain-of-function SHP2 mutation (SHP2<sup>D61G/+</sup>) were resistant to bleomycin-induced pulmonary fibrosis.
|
27736153 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the molecular basis of this inactivation and the consequences of NS-related mutations in PTPN11 on ROS-mediated inhibition are poorly understood.
|
29214238 |
2017 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.
|
29084544 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations.
|
28768581 |
2017 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster.
|
28074573 |
2017 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
|
29084544 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster.
|
28074573 |
2017 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster.
|
28074573 |
2017 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS.
|
28650561 |
2017 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
|
28628100 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations.
|
27884971 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previously, a Noonan syndrome (NS)-associated SHP2 mutation (SHP2<sup>D61G</sup>) was shown to increase the synaptic delivery of AMPA receptor, subsequently impairing synaptic plasticity and learning in adult mice.
|
28366775 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow.
|
28084675 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Approximately 50% of NS cases are caused by mutations in PTPN11.
|
28346493 |
2017 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Statistically significant differences in the presence of pulmonary stenosis (63.64% vs. 23.81%, P = 0.013897) and cryptorchidism (76.47% vs. 30%, P = 0.040224) were identified as the result of comparison of the prevalence of phenotypic features in patients with the phenotype of Noonan syndrome and mutation in the PTPN11 gene, with the prevalence of the same features in patients without PTPN11 mutation.
|
26607044 |
2016 |
|
Noonan Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Deviation of the SHP2 catalytic activity from a certain range, either too strong or too weak, may therefore lead to similar clinical outcomes in NS and LS, possibly through an imbalanced Wnt signal caused by inadequate dephosphorylation of parafibromin.
|
26742426 |
2016 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease.
|
27460089 |
2016 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study provides novel insights into the tumorigenesis associated with Ptpn11 GOF mutations and cautions that DNA-damaging treatments in Noonan syndrome patients with germ-line Ptpn11 GOF mutations could increase the risk of therapy-induced malignancies.
|
26755576 |
2016 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study reveals the critical contribution of Ptpn11 mutations in the bone marrow microenvironment to leukaemogenesis and identifies CCL3 as a potential therapeutic target for controlling leukaemic progression in Noonan syndrome and for improving stem cell transplantation therapy in Noonan-syndrome-associated leukaemias.
|
27783593 |
2016 |