|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We employed transcription activator-like effector nuclease (TALEN) genome editing technology to generate frame-shift mutants for the zebrafish ortholog of human BCL2-associated athanogene 3 (<i>BAG3</i>), an established DCM-causative gene.
|
31492659 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
These studies reveal the importance of BAG3 in coordinating protein quality control subsystem usage within the cardiomyocyte and suggest that augmenting HSF1 activity might be beneficial as a means to mitigate proteostatic stress in the context of BAG3-associated DCM.
|
31723063 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Likewise, 56% of BAG3+/DCM+, significantly co-expressed mir-154-5p and mir-182-5p, and a slight 4% did not express such combination, suggesting that co-expression of mir-154-5p and mir-182-5p may potentially show diagnostic value.
|
30792263 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that Bcl2-associated anthanogene 3 (BAG3) genetic variants were associated with outcomes in individuals of African ancestry with DCM.
|
30140897 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood.
|
30442290 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
BAG3 should be added to cardiomyopathy gene panels for screening of DCM patients, and patients previously considered gene elusive should undergo sequencing of the BAG3 gene.
|
28211974 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3 .
|
28436997 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we found that cardiac-specific Bag3-KO and E455K-knockin mice developed DCM.
|
28737513 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The female carriers of TNNT2 and BAG3 variants had more advanced DCM.
|
28669108 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found 2 truncating mutations in BAG3 in 4 DCM families (15%) and confirmed segregation with disease status by linkage (log of the odds [LOD] score = 3.8).
|
25448463 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BAG3 point mutations and large deletions are relatively frequent cause of DCM.
|
25008357 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy.
|
24623017 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BAG3, including a large deletion, were identified in 2 % of DCM.
|
23686784 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations suggested that BAG3 mutations present in 2.8% of Japanese familial DCM patients caused DCM possibly by interfering with Z-disc assembly and inducing apoptotic cell death under the metabolic stress.
|
21898660 |
2011 |
|
Cardiomyopathy, Familial Idiopathic
|
0.100 |
Biomarker
|
disease |
BEFREE |
To assess whether coding mutations of BAG3 might cause monogenic forms of the disease, we sequenced BAG3 exons in 168 independent index cases diagnosed with familial DCM and identified four truncating and two missense mutations.
|
21459883 |
2011 |