|
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 |
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 |
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Using 5% PDMA containing 10% glycerol and 15% urea, 21 single-nucleotide polymorphisms (SNPs) from HFE, MYL2, MYL3, and MYH7 genes associated with hereditary hemochromatosis (HHC) and hereditary hypertrophic cardiomyopathy (HCM) are discriminated at two running temperatures (25 degrees C and 40 degrees C), providing 100% sensitivity.
|
15706574 |
2005 |
|
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 |
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 |
BEFREE |
We analysed 186 unrelated individuals with HCM for the human ventricular myosin regulatory (MYL2) and essential light chain genes (MYL3) using polymerase chain reaction, single strand conformation polymorphism analysis and automated sequencing.
|
12404107 |
2002 |
|
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 |
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 |
|
Cardiomyopathies
|
0.440 |
GeneticVariation
|
group |
BEFREE |
The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray.
|
31104103 |
2019 |
|
Cardiomyopathies
|
0.440 |
GeneticVariation
|
group |
BEFREE |
Heterozygous missense mutations in MYL2 are known to cause dominant hypertrophic cardiomyopathy; however, none of the parents showed signs of cardiomyopathy.
|
23365102 |
2013 |
|
Cardiomyopathies
|
0.440 |
Biomarker
|
group |
BEFREE |
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC2v), which is involved in the development of human cardiomyopathy, is an important structural protein that affects physiologic cardiac sarcomere formation and heart development.
|
17885681 |
2007 |
|
Cardiomyopathies
|
0.440 |
GeneticVariation
|
group |
BEFREE |
MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.
|
30605904 |
2018 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
This study is focused on aspartic acid-to-valine (D166V) mutation in the myosin regulatory light chain, RLC (MYL2 gene), associated with a malignant form of HCM.
|
31101927 |
2019 |
|
Cardiomyopathy, Hypertrophic, Familial
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy.
|
9535554 |
1998 |
|
Hypertrophic obstructive cardiomyopathy
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
A Novel Missense Mutation p.Gly162Glu of the Gene MYL2 Involved in Hypertrophic Cardiomyopathy: A Pedigree Analysis of a Proband.
|
29549657 |
2018 |
|
Hypertrophic obstructive cardiomyopathy
|
0.360 |
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 obstructive cardiomyopathy
|
0.360 |
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 obstructive cardiomyopathy
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Hypertrophic obstructive cardiomyopathy
|
0.360 |
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 obstructive cardiomyopathy
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray.
|
31104103 |
2019 |
|
Congenital hypoplasia of lung
|
0.110 |
Biomarker
|
disease |
BEFREE |
Thus, a deficiency in contractile proteins MLC1a and MLC2 might have a role among the early molecular determinants of lung hypoplasia in the rat model of nitrofen-induced CDH.
|
17541012 |
2007 |
|
Tumor Cell Invasion
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Furthermore, the expression and phosphorylation of myosin light chain 2 are strongly associated with MerTK activity, indicating that the effect of MerTK on glioma cell invasion is mediated by actomyosin contractility.
|
22469987 |
2013 |