Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
|
25917897 |
2015 |
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 |
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 |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
|
27484170 |
2016 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
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 |
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.
|
23457302 |
2013 |
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 |
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
|
23813970 |
2013 |
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 |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
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 |
Biomarker
|
disease |
BEFREE |
The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines).
|
30024444 |
2018 |
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 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
26286251 |
2015 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Six of eight subjects with PTPN11/SHP2 mutations had pulmonary valve stenosis while no mutations were identified in those subjects (N = 4) with hypertrophic cardiomyopathy.
|
12325025 |
2002 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM) by 12 weeks of age.
|
28582432 |
2017 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.
|
23918763 |
2013 |