Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Overall, the MYL2-R58Q iPSC-CMs recapitulated the HCM phenotype by exhibiting hypertrophy, myofibrillar disarray, increased irregular beating, decreased [Ca<sup>2+</sup>]<sub>i</sub> transients, and unexpectedly a nearly 50% reduction in LTCC peak current.
|
30796699 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The R58Q mutation in the MYL2 gene was identified in some HCM patients and was considered as a deleterious HCM mutation.
|
31104103 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
|
30365366 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study focuses on the arginine to glutamine (R58Q) substitution in the human ventricular RLC (MYL2 gene), linked to malignant hypertrophic cardiomyopathy in humans and causing severe functional abnormalities in transgenic (Tg) R58Q mice, including inhibition of cardiac RLC phosphorylation.
|
30430732 |
2019 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis combined with a segregation study allowed us to classify this novel MYL2 variation, p.Gly162Glu, as a novel pathogenic mutation leading to a familial form of HCM.
|
29549657 |
2018 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
|
26497160 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers.
|
26497160 |
2016 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense mutations in MYL2 are known to cause dominant hypertrophic cardiomyopathy; however, none of the parents showed signs of cardiomyopathy.
|
23365102 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.
|
23727233 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
|
23343568 |
2013 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Peripheral blood samples were collected from: (i) seven subjects with a clinical diagnosis of HCM, all bearing known mutations previously identified by dideoxy sequencing and thus being used as blinded samples (sample type 1); (ii) one individual with a clinical diagnosis of HCM negative for mutations after dideoxy sequencing of the five most common HCM genes, MYH7, MYBPC3, TNNI3, TNNT2 and MYL2 (sample type 2); and (iii) five individuals individual with a clinical diagnosis of HCM who had not previously been genetically studied (sample type 3).
|
21425739 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.
|
21723297 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Genetic basis of end-stage hypertrophic cardiomyopathy.
|
21896538 |
2011 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
|
20855589 |
2010 |
Hypertrophic Cardiomyopathy
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.
|
18929571 |
2009 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.
|
17606808 |
2007 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.
|
16751284 |
2006 |
Hypertrophic Cardiomyopathy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
|
16076902 |
2005 |