×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
28628100 2017
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.
25383899 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
24628801 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Juvenile myelomonocytic leukaemia and Noonan syndrome.
25097206 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
24718990 2014
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
The genetic landscape of high-risk neuroblastoma.
23334666 2013
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
23756559 2013
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Juvenile myelomonocytic leukemia (JMML ) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11 , NF1, NRAS, KRAS and CBL, in the majority of cases.23832011 2013
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
22371576 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
22315187 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
[Clinical and molecular study of the Noonan syndrome].
23513489 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
22711529 2012
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
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
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260 2011
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.
21365683 2011
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.
20954246 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
A suggested role for mitochondria in Noonan syndrome.
19835954 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
20112233 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
20651068 2010
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
19008228 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
19352411 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
19047918 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.
19773259 2009
×
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Juvenile Myelomonocytic Leukemia
1.000
CausalMutation
CLINVAR
Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.
19179468 2009