|
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 |
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
|
|
|
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 |
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 |
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
|
|
|
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 |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
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 |
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 |
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
rs121918464
|
|
A |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913529
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy.
|
31250550 |
2019 |
|
rs121913529
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML.
|
22753870 |
2012 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.
|
21169357 |
2011 |
|
rs121913529
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
|
19358724 |
2009 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
|
19358724 |
2009 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
|
rs121913529
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
|
rs121913529
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
|
rs121913529
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.
|
17332249 |
2007 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.
|
17332249 |
2007 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
|
17704260 |
2007 |
|
rs121913529
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.
|
17332249 |
2007 |
|
rs121913529
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.
|
15696205 |
2005 |
|
rs121913529
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.
|
15696205 |
2005 |