|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Studies have shown that NSML-associated Y279C mutation exhibited the reduced phosphatase activity, leading to loss-of-function (LOF) of SHP2.
|
31258001 |
2019 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The two patients with LS had p.Y279C and p.T468 M mutations of the PTPN11 gene, respectively.
|
31722741 |
2019 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found that LS-associated SHP2 mutants (Y279C, T468M, Q506P, and Q510E) exhibited a substantially reduced phosphatase activity toward parafibromin when compared with wild-type SHP2.
|
26742426 |
2016 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
|
26377839 |
2015 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report here 2 unrelated Japanese cases of LS with different PTPN11 mutations (p.Y279C and p.T468P).
|
25917897 |
2015 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.
|
21747628 |
2011 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM).
|
21339643 |
2011 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM).
|
21339643 |
2011 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
|
19768645 |
2010 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
We describe two unrelated LS cases with a common PTPN11 mutation Y279C and with completely different clinical features including distinct changes in skin pigmentation.
|
19768645 |
2010 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
|
20308328 |
2010 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.
|
19725129 |
2009 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.
|
16679933 |
2006 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.
|
16679933 |
2006 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A missense mutation (836A-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in the patient with LEOPARD syndrome, whereas no mutation in PTPN11 gene was detected in the father or in additional family members.
|
14991917 |
2004 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
|
14634749 |
2003 |
|
rs121918456
|
|
|
0.800 |
GeneticVariation |
BEFREE |
All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene.
|
12161596 |
2002 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
rs121918456
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene.
|
12161596 |
2002 |