rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor.
|
25383899 |
2014 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
|
24718990 |
2014 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
|
24628801 |
2014 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2.
|
22371576 |
2012 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.
|
21365683 |
2011 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
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 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
A suggested role for mitochondria in Noonan syndrome.
|
19835954 |
2010 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance.
|
19251646 |
2009 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
|
19008228 |
2009 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432.
|
19927903 |
2009 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
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 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
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 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.
|
18378677 |
2008 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
The natural history of Noonan syndrome: a long-term follow-up study.
|
16990350 |
2007 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
|
16461457 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.
|
16533526 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
rs121918461
|
|
Noonan Syndrome
|
G |
0.720 |
CausalMutation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
rs121918461
|
|
Noonan Syndrome
|
C |
0.720 |
GeneticVariation
|
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |