|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High incidence of malformation syndromes in a series of 1,073 children with cancer.
|
15712196 |
2005 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The molecular defects of NS are genetically heterogeneous and involve several genes other than PTPN11 related to the RAS-MAPK pathway.
|
19020799 |
2008 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.
|
18203203 |
2008 |
|
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 |
The short-term responsiveness to GH therapy in NS with respect to PTPN11 mutations has been addressed in 3 studies in the past.
|
20029239 |
2009 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.
|
19017799 |
2008 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.
|
23584145 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened a number of solid tumors, including those documented in NS or in which deregulated RAS signaling occurs at significant frequency, for PTPN11 mutations.
|
16631468 |
2006 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia.
|
28587547 |
2018 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results establish SHP2 and Nck2 as NMDAR regulatory proteins and strongly suggest that NMDAR dysfunction contributes to NS cognitive deficits.
|
30089263 |
2018 |
|
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 |
GeneticVariation
|
disease |
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 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones.
|
16358218 |
2006 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This patient provides additional information regarding the genotype-phenotype correlation for PTPN11 T73I mutation in NS.
|
26286251 |
2015 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LS and Noonan syndrome (NS) share many features, including cardiovascular disorders, and PTPN11 gene mutation is commonly reported in both syndromes.
|
19207402 |
2009 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.
|
19251646 |
2009 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified mutations in human Shp2 as the cause of the inherited disorder Noonan syndrome.
|
12826400 |
2003 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
|
23756559 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to estimate the cancer risk and spectrum in patients with NS carrying a PTPN11 mutation.
|
21407260 |
2011 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2), encoded by PTPN11, which has a role in GH receptor signaling.
|
15985475 |
2005 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In addition, these fly models can be used for sensitized screens to identify novel interacting genes as well as for high-throughput screening of therapeutic compounds for NS and PTPN11-related cancers.
|
16399795 |
2006 |