|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
|
21151901 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
|
20497714 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
GeneticVariation
|
BEFREE |
Heart tissue specific transgenic mice of human LMNA E82K, a mutation causing dilated cardiomyopathy, were generated.
|
21151901 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
|
20155465 |
2010 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
[Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells].
|
17386158 |
2007 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
|
16630578 |
2006 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
GeneticVariation
|
BEFREE |
We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation.
|
16630578 |
2006 |
|
Cardiomyopathy, Dilated
|
|
0.720 |
CausalMutation
|
CLINVAR |
[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].
|
16266469 |
2005 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
|
20497714 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
|
21151901 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
|
20155465 |
2010 |
|
Hereditary Motor and Sensory-Neuropathy Type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
|
16630578 |
2006 |
|
Heart Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings suggest that LMNA E82K significantly reduced the Cx43 expression and altered its localization which may be one of the pathological mechanisms underlying LMNA-related heart disease.
|
20497714 |
2010 |
|
Familial dilated cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
|
20497714 |
2010 |
|
Cardiomyopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
|
16630578 |
2006 |
|
Conduction disorder of the heart
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
|
16630578 |
2006 |