Juvenile Myelomonocytic Leukemia
|
|
0.800 |
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 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
|
24718990 |
2014 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
|
24628801 |
2014 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.
|
25383899 |
2014 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
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 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.
|
21365683 |
2011 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
A suggested role for mitochondria in Noonan syndrome.
|
19835954 |
2010 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
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 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
|
19008228 |
2009 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.
|
19251646 |
2009 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.
|
18378677 |
2008 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.
|
18562489 |
2008 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
|
16461457 |
2006 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
|
15240615 |
2004 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
|
15273746 |
2004 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
Juvenile Myelomonocytic Leukemia
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |