×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
Biomarker
group
HPO
×
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
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
20696008
2011
×
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
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
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
CLINVAR
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
23815709
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
19716701
2009
×
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
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 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 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
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
CausalMutation
group
CLINVAR
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
22484823
2013
×
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
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
CausalMutation
group
CLINVAR
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
22275259
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
23155419
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
CausalMutation
group
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.400
GeneticVariation
group
CLINVAR
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
22153487
2012
×
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
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
GeneticVariation
group
BEFREE
In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES ), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM).
23300193
2013