|
rs104894369
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain.
|
30430732 |
2019 |
|
rs104894369
|
|
|
0.740 |
GeneticVariation |
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 |
|
rs104894369
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Therefore, we confirmed that R58Q could be passed from generation to generation along with HCM symptoms and that it was indeed a deleterious mutation for HCM.
|
31104103 |
2019 |
|
rs104894369
|
|
|
0.740 |
GeneticVariation |
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 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
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 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
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 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.
|
21723297 |
2011 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.
|
21835320 |
2011 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.
|
20855589 |
2010 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.
|
18929571 |
2009 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.
|
14594949 |
2004 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
|
11102452 |
2001 |
|
rs104894369
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
|
9535554 |
1998 |