|
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels.
|
30322937 |
2018 |
|
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Therefore, increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation.
|
24928957 |
2014 |
|
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM.
|
15386449 |
2004 |
|
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 38-year-old female patient with HCM in which genetic testing identified the well-known pathogenic p.Arg403Gln mutation in myosin heavy chain 7. iPSCs express pluripotency markers, demonstrate trilineage differentiation capacity, and display a normal 46,XX female karyotype.
|
30508693 |
2018 |
|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Hypertrophic cardiomyopathy <i>MYH7</i>-mutation R723G alters mRNA secondary structure.
|
31790337 |
2020 |
|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time.
|
17097032 |
2006 |
|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.
|
29555974 |
2018 |
|
rs121913630
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages.
|
20819418 |
2010 |
|
rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages.
|
20819418 |
2010 |
|
rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs121913627
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
|
17383184 |
2007 |
|
rs121913625
|
|
|
0.720 |
GeneticVariation |
BEFREE |
MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD.
|
12881443 |
2003 |
|
rs121913625
|
|
|
0.720 |
GeneticVariation |
BEFREE |
CRISPR/Cas9 editing produced 11 variants of the HCM-causing mutation c.C9123T-MYH7 [(p.R453C-β-myosin heavy chain (MHC)] in 3 independent hPSC lines.
|
29741611 |
2018 |
|
rs121913631
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A deletion variant (p.L232-R238del) was present in 3 unrelated HCM probands, but it did not segregate with HCM in a family who also had a MYH7 mutation (p.L907V).
|
21642240 |
2011 |
|
rs121913631
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs121913637
|
|
|
0.720 |
GeneticVariation |
BEFREE |
All children (aged 1.5-16.7 years) from 14 HCM families with identified disease-causing mutations (the Arg719Trp mutation in the beta-myosin heavy chain gene [MYH7], the Asp175Asn mutation in the alpha-tropomyosin gene [TPM1], the Gln1061X mutation in the myosin-binding protein C gene [MYBPC3], and the IVS5-2A-->C mutation in the MYBPC3 gene) and 53 matched control children were examined with electrocardiography and 2- and 3-dimensional echocardiography (2DE and 3DE).
|
16504640 |
2006 |
|
rs121913637
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The novel double mutation of Ala26Val plus Arg719Trp in MYH7 identified in a Chinese family highlights the remarkable genetic heterogeneity of HCM, which provides important information for genetic counseling, accurate diagnosis, prognostic evaluation, and appropriate clinical management.
|
19645038 |
2009 |
|
rs36211715
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In a small cohort of HCM patients (n=8), we searched for mutations in the two most common genes responsible for HCM and found four missense mutations in the MYH7 gene encoding cardiac β-myosin heavy chain (R204H, M493V, R719W, and R870H) and three mutations in the myosin-binding protein C3 gene (MYBPC3) including one missense (A848V) and two frameshift mutations (c.3713delTG and c.702ins26bp).
|
23816408 |
2013 |
|
rs36211715
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy.
|
21674835 |
2011 |
|
rs1060501436
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy.
|
28866666 |
2018 |
|
rs121913633
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs121913634
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy.
|
21674835 |
2011 |
|
rs121913641
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).
|
12473556 |
2002 |
|
rs3218714
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate.
|
26969327 |
2016 |
|
rs3218716
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a novel association between MYBPH and hypertrophy traits in HCM patients carrying the p.A797T MYH7 mutation, suggesting that variation in MYBPH can modulate the severity of hypertrophy in HCM.
|
26969327 |
2016 |