rs121918464
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
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 |
rs121918462
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.
|
15539800 |
2004 |
rs121918462
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Patients with a p.Thr73Ile mutation also had more chances of developing MPD/JMML but with a milder clinical course.
|
25097206 |
2014 |
rs121918462
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.
|
15723289 |
2005 |
rs397507520
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a female NS patient carrying a PTPN11 germline mutation c.417 G > C (p.E139D), who developed in her second year of life an acute lymphoblastic leukemia (ALL) and after remission, she developed at 4 years of age a juvenile myelomonocytic leukemia (JMML).
|
22315187 |
2012 |
rs121918464
|
|
A |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
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 |
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 |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
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 |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
|
23832011 |
2013 |
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 |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
rs397507510
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
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 wide molecular analysis of minimally differentiated acute myeloid leukemia.
|
19773259 |
2009 |