rs397507510
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
rs397507510
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
rs397507510
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
|
23832011 |
2013 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The genetic landscape of high-risk neuroblastoma.
|
23334666 |
2013 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K.
|
21555152 |
2011 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
To model JMML pathogenesis, we generated knockin mice that conditionally express the leukemia-associated mutant Ptpn11(D61Y).
|
19179468 |
2009 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.
|
19773259 |
2009 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
|
18925961 |
2008 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.
|
15644411 |
2005 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
|
14982869 |
2004 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
|
15604238 |
2004 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
rs397507510
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |