|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Background Mutations in αB-crystallin result in proteotoxic cardiomyopathy with desmin mislocalization to protein aggregates.
|
30773991 |
2019 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Des gene coding for the muscle-specific intermediate filament protein desmin lead to myopathies and cardiomyopathies.
|
31341183 |
2019 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
We investigated the involvement of desmin in the cardiomyopathy caused by the lamin A/C gene mutation using the Lmna<sup>H222P/H222P</sup> mouse model of the disease.
|
30342008 |
2018 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
|
29274115 |
2018 |
|
Cardiomyopathies
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemistry was compatible with inherited arrhythmogenic cardiomyopathy/dysplasia, and the functional study showed an abnormal growth pattern and cellular adhesion, reduced desmin RNA expression, and some other membrane proteins, as well, and desmin aggregates in transfected cells expressing the mutant desmin.
|
29212896 |
2018 |
|
Cardiomyopathies
|
0.600 |
AlteredExpression
|
group |
BEFREE |
IOD was significantly different between dilative cardiomyopathy cases and controls and also, overall desmin expression area was increased in dilatative cardiomyopathy patients.
|
29556622 |
2017 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in the small heat shock protein chaperone CRYAB (αB-crystallin/HSPB5) and the intermediate filament protein desmin, phenocopy each other causing cardiomyopathies.
|
28470624 |
2017 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
Opposite effects of catalase and MnSOD ectopic expression on stress induced defects and mortality in the desmin deficient cardiomyopathy model.
|
28629836 |
2017 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.
|
29034897 |
2017 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.
|
28523323 |
2017 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The desmin network's pivotal role in myocytes is evident since mutations in the human desmin gene cause severe myopathies and cardiomyopathies.
|
28469177 |
2017 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Cardiomyopathies associated with lamin A/C (n = 5), sarcomeric (n = 8), and desmin (n = 3) mutations all showed a different pattern from that of the desmosomal and PLN mutation carriers.
|
28365402 |
2017 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
Thus, in addition to conventional histological identification of protein aggregates, specific desmin peptides show a marked difference in quantity and localization in a tissue section of desmin-related cardiomyopathy and differentiate from other cardiomyopathies.
|
28341603 |
2017 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
Our data demonstrated that canonical Wnt/β-catenin signaling was activated through nuclear accumulation of β-catenin in idiopathic dilated cardiomyopathy, ischemic heart disease, and murine desmin-related cardiomyopathy when compared with nonfailing controls and transcription factor 7-like 2 (TCF7L2) was the main β-catenin partner of the T-cell factor (TCF) family in adult hearts.
|
27301468 |
2016 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Due to the rarity of these myopathies, if some clinical patterns (such as distal myopathy associated with cardiomyopathy due to desmin mutations) are now well known, surprises remain possible and should lead to systematic testing of the known genes in case of a typical histological presentation.
|
26342832 |
2015 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both.
|
25358400 |
2015 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive and sporadic forms of protein aggregation myopathies and cardiomyopathies.
|
25394388 |
2015 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies.
|
25541946 |
2014 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
This report describes the first case of desmin cardiomyopathy with early manifestation in adolescence and transformation of several clinical phenotypes over time, representing sufficient difficulties for the correct clinical diagnosis and treatment of the disease at an early stage.
|
22484823 |
2013 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Sildenafil treatment significantly increased myocardial PKG activity and significantly reduced myocardial accumulation of CryAB(R120G), ubiquitin conjugates, and aberrant protein aggregates in mice with CryAB(R120G)-based desmin-related cardiomyopathy.
|
23770744 |
2013 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations of the human desmin gene on chromosome 2q35 cause hereditary and sporadic myopathies and cardiomyopathies.
|
22386993 |
2012 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
For example, mutations in the DES gene, which encodes the IF desmin, lead to desmin-related myopathy and cardiomyopathy.
|
21135508 |
2011 |
|
Cardiomyopathies
|
0.600 |
Biomarker
|
group |
BEFREE |
Collectively, these diseases constitute a rare autosomal-dominant inherited disorder called α-crystallinopathy (crystallinopathy), also known as desmin-related cardiomyopathy.
|
22040875 |
2011 |
|
Cardiomyopathies
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Furthermore, PA28α knockdown promoted, whereas PA28α overexpression attenuated, accumulation of the mutant protein associated with desmin-related cardiomyopathy in cultured cardiomyocytes.
|
21841311 |
2011 |