rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
Somatic mutation (E76Q ) in the interface of SH2-PTP domain is the most commonly identified mutation found in up to 35% of patients with JMML .
31244092
2019
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
We established mutated and non-mutated induced pluripotent stem cell (iPSC) clones from a patient with PTPN11 (c.226G>A )-mutated juvenile myelomonocytic leukaemia (JMML ).
31222725
2019
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
Somatic mutation E76K in SHP2 is the most commonly identified mutation found in up to 35% of patients with JMML .
30129165
2018
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
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
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
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
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
This report describes a juvenile myelomonocytic leukemia (JMML ) case with a typical PTPN11 mutation (p.E76K ) at different allele frequencies in the bone marrow mononuclear cells, buccal smear cells, and fingernails at diagnosis, which was suggestive of PTPN11 somatic mosaicism; however, the PTPN11 mutation in the buccal smear cells and fingernails was lost after unrelated cord blood transplantation.
26440969
2015
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
UNIPROT
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
24493721
2014
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
Ptpn11(E76K ) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias.
21930766
2011
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
BEFREE
Glu76 was the most commonly affected residue in JMML (n = 45), with the Glu76Lys alteration (n = 29) being most frequent.
15928039
2005
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
0.870
GeneticVariation
UNIPROT
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
12717436
2003
rs121918464
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
A
0.870
CausalMutation
CLINVAR
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206
2014
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
23832011
2013
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
The genetic landscape of high-risk neuroblastoma.
23334666
2013
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.
19773259
2009
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
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
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
18925961
2008
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
17020470
2006
rs397507510
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
T
0.810
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006