Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
|
23813970 |
2013 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
|
22585553 |
2012 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.
|
22411627 |
2012 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
|
21910245 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this issue of the JCI, Wu et al. and Marin et al. describe two new mouse models of inherited disorders of the RAS/MAPK signal transduction pathway that display hypertrophic cardiomyopathy (HCM); the model from the former paper was from a gain-of-function Raf1 mutation, and the model from the latter paper was from a protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) mutated allele encoding Shp2 with impaired catalytic function.
|
21339640 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
|
21910226 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy.
|
19795160 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
|
19825837 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
|
20535210 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.
|
20493809 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In our total cohort, patients with NS and a PTPN11 mutation presented significantly higher prevalence of short stature (p = 0.03) and pulmonary valve stenosis (p = 0.01), and lower prevalence of hypertrophic cardiomyopathy (p = 0.01).
|
20578946 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
|
20883402 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
|
19582499 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.
|
17935252 |
2007 |
Hypertrophic Cardiomyopathy
|
0.400 |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |