|
Filaminopathy, autosomal dominant
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
A novel heterogeneous 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the Ig-like domain 7 of the FLNC gene was found to cause filamin C-related MFM.
|
29866061 |
2018 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.
|
22131542 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in myotilin (MYOT), ZASP and filamin C (FLNC) encoding genes cause autosomal dominant myopathy that manifests in adulthood.
|
19181098 |
2008 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In humans, mutations in the actin-binding protein Filamin-C result in myopathies, but the underlying molecular function is not well understood.
|
28732005 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
To investigate the mechanism of disease in FLNC<sup>W2710X</sup> myopathy we overexpressed fluorescently tagged FLNC or FLNC<sup>W2710X</sup> in zebrafish.
|
26969713 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in FLNC cause two distinct types of myopathy.
|
22961544 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Here, we show that KY interacts with several sarcomeric cytoskeletal proteins including, amongst others, filamin C and the slow isoform of the myosin-binding protein C. These interactions were confirmed in vitro and because of its central role in skeletal muscle disease, characterized in more detail for filamin C. A role for KY in regulating filamin C function in vivo is supported by the expression analysis of filamin C in the null ky mouse mutant, where distinct irregular subcellular localization of filamin C was found in subsets of muscle fibres, which appears to be a specific outcome of KY deficiency.
|
15385448 |
2004 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Filamin myopathy is associated with mutations in the filamin C gene (FLNC) and is a myofibrillar myopathy characterized by focal myofibrillar destruction and cytoplasmic aggregates containing several Z-disk-related proteins.
|
20697107 |
2010 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Muscle imaging has an important role in distinguishing the different filamin-C myopathy types.
|
27816332 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Differently from previously identified variants, our family showed a predominant leg involvement and myofibrillar aggregates, thus further expanding the spectrum of Filamin C related myopathies.
|
30685713 |
2019 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
To establish if ABP-280 may be a candidate for one of the muscle disease localized by linkage analysis to distal Xq28 we looked for alternative forms of ABP-280 mRNA.
|
7689010 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Filamin C-related myopathies: pathology and mechanisms.
|
23109048 |
2013 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This is an original FLNC mutation in a MFM family with an atypical clinical and histopathological presentation, given the presence of significantly focal lesions and prominent sarcoplasmic masses in muscle biopsies and the constant heart involvement preceding significantly the onset of the myopathy.
|
27633507 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC.
|
20578970 |
2010 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |