|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
|
16733669 |
2006 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
|
26377839 |
2015 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
|
16208280 |
2005 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Studies have shown that NSML-associated Y279C mutation exhibited the reduced phosphatase activity, leading to loss-of-function (LOF) of SHP2.
|
31258001 |
2019 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutations in LEOPARD syndrome.
|
12161596 |
2002 |
|
LEOPARD Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In in vitro assays, melanin synthesis in human melanoma cells expressing SHP-2 with LS-associated mutations was higher than in cells expressing normal SHP-2, suggesting that LS-associated SHP-2 mutations might enhance melanin synthesis in melanocytes, and that the activation of Akt/mTOR signalling may contribute to this process.
|
25917897 |
2015 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Regarding Noonan-like syndromes, mutation of the PTPN11 gene is the main causal factor in LEOPARD syndrome, and it also plays a role in neurofibromatosis-Noonan syndrome.
|
17020470 |
2006 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
|
19864201 |
2009 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11.
|
27484170 |
2016 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of particular importance is the finding that intervention directly at the mutant Shp2 protein is effective because this would facilitate custom-tailored therapeutic approaches for patients carrying LS mutations in Shp2.
|
23673659 |
2013 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL.
|
18854871 |
2009 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 gene assays revealed a T468M mutation, typical of LS.
|
21365175 |
2011 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline and somatic mutations in PTPN11 are involved in Noonan syndrome (NS), LEOPARD syndrome (LS), and hematological malignancies, as well as several solid tumors.
|
25039348 |
2014 |
|
LEOPARD Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
PZR hyper-tyrosyl phosphorylation is facilitated in a phosphatase-independent manner by enhanced Src recruitment to NS and LS Shp2.
|
24865967 |
2014 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome.
|
24939587 |
2015 |
|
LEOPARD Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first report of mutations in both FBN1 and PTPN11 with combined phenotypes of Marfan and LEOPARD syndromes.
|
19725129 |
2009 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study reveals that LEOPARD syndrome mutations weaken the intramolecular interaction between the N-SH2 and phosphatase domains, leading to a change in SHP2 molecular switching mechanism.
|
23457302 |
2013 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.
|
17935252 |
2007 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Catalytically activating mutations in <i>Ptpn11</i>, which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in <i>Ptpn11</i> are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome).
|
29559584 |
2018 |
|
LEOPARD Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data suggests that mutations in the PTPN11 gene are not a cause of HCM in the absence of Noonan/LEOPARD syndromes.
|
16488201 |
2006 |