|
rs267607578
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
|
22177269 |
2012 |
|
rs56984562
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
|
21085127 |
2011 |
|
rs28933093
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM.
|
12920062 |
2003 |
|
rs61661343
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Primary skin fibroblasts from DCM patients carrying the most prevalent Finnish founder mutation (p.S143P) in <i>LMNA</i> were reprogrammed into hiPSCs and further differentiated into cardiomyocytes (CMs).
|
31208058 |
2019 |
|
rs57045855
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms.
|
16981056 |
2006 |
|
rs57045855
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or nonspecific changes (R541S).
|
16061563 |
2005 |
|
rs61661343
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Screening for the lamin A/C gene and, particularly, the S143P mutation seems warranted when patients with DCM have conduction system disturbances.
|
15140538 |
2004 |
|
rs59026483
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The mutations p.Q355X and p.S22L have not been reported before, whereas p.R190W has already been reported in other studied DCM cohorts.
|
15539782 |
2005 |
|
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 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Mutations in cardiac troponin C (D75Y, E59D, and G159D), a key regulatory protein of myofilament contraction, have been associated with dilated cardiomyopathy (DCM).
|
27133568 |
2016 |
|
rs104893823
|
|
|
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 |
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 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres.
|
17021793 |
2007 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
DCM troponin C mutant Gly159Asp blunts the response to troponin phosphorylation.
|
17577574 |
2007 |
|
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 |