Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies.
|
27908349 |
2016 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding FLNc give rise to skeletal muscle diseases and cardiomyopathies.
|
27206985 |
2016 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In 3 individuals, WGS identified variants in genes implicated in cardiomyopathy but not included in prior panel testing: a pathogenic protein tyrosine phosphatase, non-receptor type 11 (<i>PTPN11</i>) variant and variants of uncertain significance in integrin-linked kinase (<i>ILK</i>) and filamin-C (<i>FLNC</i>).
|
29030401 |
2017 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.
|
29119312 |
2017 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy.
|
29543670 |
2018 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Our data presented here provide further evidence for the role of FLNC in pediatric RCM, and suggest the need to include FLNC in genetic testing of cardiomyopathy patients including those with early ages of onset.
|
30260051 |
2018 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies.
|
29858533 |
2018 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype.
|
31627847 |
2019 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Because of the presence of a similar phenotype in the proband's mother, brother, and maternal aunt, research-based whole exome sequencing was pursued and a novel truncating variant (p.Trp34*-FLNC) in the cardiomyopathy-causative FLNC-encoded filamin C unearthed that cosegregated with disease.
|
30935706 |
2019 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
This work reported the first observation of a left ventricular non-compaction associated with a unique probably causal variant in FLNC which highlights the role of FLNC in cardiomyopathies.
|
31245841 |
2019 |
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies.
|
30685713 |
2019 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.
|
31843279 |
2020 |
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
The most defining characteristic is a subepicardial ring-like scar pattern in DSP/FLNC, which should be considered in future diagnostic criteria for ALVC.
|
31317183 |
2020 |