|
rs59270054
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation.
|
16630578 |
2006 |
|
rs59270054
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Heart tissue specific transgenic mice of human LMNA E82K, a mutation causing dilated cardiomyopathy, were generated.
|
21151901 |
2010 |
|
rs74315379
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization.
|
27936050 |
2016 |
|
rs74315379
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs74315380
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs74315380
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization.
|
27936050 |
2016 |
|
rs111033559
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death.
|
29325795 |
2018 |
|
rs111033560
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
|
rs28933091
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Point mutations that cause dilated cardiomyopathy (L85R and N195K) and autosomal dominant Emery-Dreifuss muscular dystrophy (L530P) modify the assembly properties of lamins A and C and cause partial mislocalization of emerin, an inner nuclear membrane protein, in HeLa cells.
|
11792810 |
2001 |
|
rs387907218
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy.
|
29071820 |
2018 |
|
rs397516881
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM).
|
28737513 |
2017 |
|
rs45546039
|
|
|
0.710 |
GeneticVariation |
BEFREE |
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
|
22999724 |
2012 |
|
rs59301204
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A mutation in the gene encoding Lamin A/C (LMNA<sub>p.R331Q</sub> ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy.
|
28436080 |
2017 |
|
rs60682848
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
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 |
The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction with troponin I.
|
18803402 |
2008 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC).
|
17577574 |
2007 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae.
|
17446435 |
2007 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy.
|
17360712 |
2007 |
|
rs104894501
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In order to understand how the dilated cardiomyopathy-causing Glu40Lys mutation in TM affects actomyosin interactions, thin filaments have been reconstituted in muscle ghost fibers by incorporation of labeled Cys707 of myosin subfragment-1 and Cys374 of actin with fluorescent probe 1.5-IAEDANS and α-tropomyosin (wild-type or Glu40Lys mutant).
|
21741356 |
2011 |
|
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 |
The effect of the dilated cardiomyopathy-causing mutation Glu54Lys of alpha-tropomyosin on actin-myosin interactions during the ATPase cycle.
|
19646950 |
2009 |
|
rs104894505
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM).
|
19222994 |
2009 |
|
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 |