Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.
|
17177198 |
2007 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chronic and juvenile myelomonocytic leukemias (CMML and JMML) are aggressive myeloproliferative neoplasms that are incurable with conventional chemotherapy.
|
21451123 |
2011 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
|
12717436 |
2003 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unraveling the genetics of JMML has demonstrated that JMML in patients with germ line PTPN11 and CBL mutations often regresses spontaneously, and therapy is seldom indicated.
|
27913534 |
2016 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic PTPN11 mutations contribute to leukemogenesis in children with hematologic malignancies including juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, and myelodysplasia.
|
18799937 |
2008 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.
|
20954246 |
2010 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
|
16115145 |
2005 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
|
12717436 |
2003 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Collectively, the results from molecular genetics study and survival analyses suggested a relatively higher frequency and unfavorable prognostic implication of PTPN11 mutations in Korean patients with JMML.
|
21901340 |
2012 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
|
28628100 |
2017 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Previous studies have demonstrated that mutations in Ptpn11 induce a JMML-like MPN through cell-autonomous mechanisms that are dependent on Shp2 catalytic activity.
|
27783593 |
2016 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional analyses documented that the two most common mutations in PTPN11 associated with JMML caused a gain of function.
|
12717436 |
2003 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These characteristics identify a subset of pediatric AML with PTPN11 mutations that share clinical and biologic features with JMML.
|
15385933 |
2004 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
|
19509418 |
2009 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that hematopoietic cells differentiated from human induced pluripotent stem cells (hiPSCs) harboring NS/JMML-causing PTPN11 mutations recapitulated JMML features. hiPSC-derived NS/JMML myeloid cells exhibited increased signaling through STAT5 and upregulation of miR-223 and miR-15a.
|
26456833 |
2015 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We recently demonstrated that somatic PTPN11 mutations are the most frequent lesion in juvenile myelomonocytic leukemia and are observed in a smaller percentage of children with other myeloid malignancies.
|
14982869 |
2004 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia.
|
19874312 |
2010 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transduction of the PTPN11 mutation into JMML iPSCs with the wild-type of both genes increased CD34<sup>+</sup> cell production to a level comparable to that obtained with JMML iPSC colonies harbouring the two genetic mutations.
|
31222725 |
2019 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
|
14982869 |
2004 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A suggested role for mitochondria in Noonan syndrome.
|
19835954 |
2010 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonsyndromic Juvenile Myelomonocytic Leukemia With PTPN11 Mutation in a 9-Year-old Girl.
|
26181421 |
2015 |