|
rs104894505
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Mice with Glu54Lys mutation in α-tropomyosin (Tm54) demonstrate typical DCM phenotype with reduced myofilament Ca2+ sensitivity.
|
28379313 |
2017 |
|
rs1212453165
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Mice with Glu54Lys mutation in α-tropomyosin (Tm54) demonstrate typical DCM phenotype with reduced myofilament Ca2+ sensitivity.
|
28379313 |
2017 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of the DCM-mutant containing thin filaments (E40K, E54K, and D230N in α-tropomyosin; R141W and ΔK210 in cardiac troponin T; K36Q in cardiac troponin I; G159D in cardiac troponin C, and E361G in cardiac α-actin).
|
23539503 |
2013 |
|
rs758264780
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of the DCM-mutant containing thin filaments (E40K, E54K, and D230N in α-tropomyosin; R141W and ΔK210 in cardiac troponin T; K36Q in cardiac troponin I; G159D in cardiac troponin C, and E361G in cardiac α-actin).
|
23539503 |
2013 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
rs104894505
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
rs1212453165
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
rs758264780
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Two distinct point mutations within alpha-tropomyosin are associated with the development of DCM in humans: Glu40Lys and Glu54Lys.
|
17556658 |
2007 |
|
rs104894505
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To investigate the functional consequences of alpha-TM mutations associated with DCM, we generated transgenic mice that express mutant alpha-TM (Glu54Lys) in the adult heart.
|
17556658 |
2007 |
|
rs1212453165
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To investigate the functional consequences of alpha-TM mutations associated with DCM, we generated transgenic mice that express mutant alpha-TM (Glu54Lys) in the adult heart.
|
17556658 |
2007 |
|
rs758264780
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Two distinct point mutations within alpha-tropomyosin are associated with the development of DCM in humans: Glu40Lys and Glu54Lys.
|
17556658 |
2007 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.
|
16043485 |
2005 |
|
rs104894505
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.
|
16043485 |
2005 |
|
rs1212453165
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.
|
16043485 |
2005 |
|
rs758264780
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K.
|
16043485 |
2005 |
|
rs199476301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The K15N mutation in the TPM1 gene is associated with familial dilated cardiomyopathy (DCM) but the effect of this mutation on Tpm's function is unknown.
|
28732641 |
2017 |
|
rs199476317
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To determine how a single amino acid mutation in α-tropomyosin (Tm) can lead to a highly penetrant DCM we generated a novel transgenic mouse model carrying the D230N mutation.
|
28600229 |
2017 |
|
rs199476301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The K15N mutation in Tpm1.1, known to be associated with familial DCM, is located within the newly identified Lmod2 binding site of Tpm1.1.
|
26873245 |
2016 |
|
rs199476317
|
|
|
0.020 |
GeneticVariation |
BEFREE |
TPM1 D230N segregated with DCM in 2 large unrelated families.
|
20117437 |
2010 |
|
rs6738
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The plasma miR-21 level of TPM1 gene rs6738 locus AA carriers was significantly higher than that of the AG and GG genotypes (P < .001).The SNPs of TPM1 gene rs6738 locus is associated with the risk of DCM, which may be related to the abnormal increase of miR-21 level in DCM patients, but further research is needed to prove the causal relationship between miR-21 level and DCM risk.
|
31689804 |
2019 |
|
rs7178040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genomic DNA was extracted to analyze the TPM1 gene rs12148828, rs11558748, rs707602, rs6738, rs7178040 loci genotypes, and the plasma miR-21 level was analyzed by reverse transcription-PCR (RT-PCR).The risk of DCM development in the rs6738 locus G allele carriers were 1.69 times more than A allele carriers (95% CI: 1.22-2.33, P = .001).
|
31689804 |
2019 |
|
rs1071646
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population.
|
26400351 |
2015 |
|
rs1346512134
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs192883939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |