Hypertrophic Cardiomyopathy
|
0.180 |
Biomarker
|
disease |
BEFREE |
Scoring by "diagnostic effectiveness" highlighted that PLN should also be routinely screened besides historically validated genes for HCM and its mimics.
|
29875424 |
2019 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
To screen for PLN gene mutations in a group of HCM patients from the southern Poland.
|
21332051 |
2011 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Compared with similar studies, we identified an overall yield of PLN-HCM mutations of 0.65%, similar to 3 genes that are part of current HCM genetic test panels.
|
21167350 |
2011 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.
|
12705874 |
2003 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
The CaMKII target pT17-phospholamban was 5.5-fold increased only in sarcomere-mutation HCM (P=0.01), as was autophosphorylated CaMKII (P<0.01), suggestive of constitutive activation.
|
27688314 |
2016 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Interpreting secondary cardiac disease variants in an exome cohort.
|
23861362 |
2013 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
|
21167350 |
2011 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
|
21332051 |
2011 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Therefore, PLN gene mutations were not found to be associated with HCM in a Northern Greece population.
|
16382369 |
2005 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
LHGDN |
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.
|
12705874 |
2003 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
|
12639993 |
2003 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
Hypertrophic Cardiomyopathy
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing.
|
26917049 |
2016 |
Hypertrophic Cardiomyopathy
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
|
16235537 |
2005 |
Hypertrophic Cardiomyopathy
|
0.180 |
Biomarker
|
disease |
BEFREE |
Among these are mutations in TNNC1- encoded cardiac troponin C, PLN-encoded phospholamban, and JPH2-encoded junctophilin 2 which have each been associated with HCM in multiple studies.
|
22515980 |
2012 |