×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
HPO
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
MGD
Disruption of muscle architecture and myocardial degeneration in mice lacking desmin.
8794866
1996
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
BEFREE
To determine whether a defect of desmin induces dilated cardiomyopathy , 44 probands with FDCM underwent clinical evaluation and DNA analysis.
10430757
1999
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
BEFREE
Missense mutations in the rod domain of the lamin A/C gene provide a genetic cause for dilated cardiomyopathy and indicate that this intermediate filament protein has an important role in cardiac conduction and contractility.
10580070
1999
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
MGD
The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function.
10591032
1999
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Desmin splice variants causing cardiac and skeletal myopathy.
11073539
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
BEFREE
Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy .
11052860
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
10717012
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
BEFREE
The missense mutation (Ile451Met ) of the desmin gene can be the genetic cause of dilated cardiomyopathy , although with very low frequency.
11728149
2001
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
12620971
2003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
Desmin myopathy.
14724127
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Desmin myopathy.
14724127
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
LHGDN
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
17626518
2006
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
BEFREE
However, mutations at the inner dense plaque, particularly affecting the desmin -binding site of desmoplakin, may result in ARVC with predominantly left ventricular involvement and clinical overlapping with dilated cardiomyopathy .
16698823
2006
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
BEFREE
According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM).
16890305
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
BEFREE
Prevalence of desmin mutations in dilated cardiomyopathy .
17325244
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
AlteredExpression
group
LHGDN
Immunoadsorption and subsequent immunoglobulin substitution decreases myocardial gene expression of desmin in dilated cardiomyopathy.
17924085
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
17720647
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
LHGDN
Prevalence of desmin mutations in dilated cardiomyopathy.
17325244
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
18061454
2008
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
BEFREE
Analysis of hearts from transgenic animals revealed that mutant desmin loses its Z-disc localization but it can still associate with the intercalated discs, which, however, have an altered architecture, resembling other examples of dilated cardiomyopathy .
18539904
2008
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
19763525
2009
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
19587455
2009