×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
22484823
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
23425003
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
BEFREE
Variants in the desmin gene (DES) are associated with desminopathy ; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy.
23815709
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
UNIPROT
Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy -causing mutant desmin variants carrying mutations in the head, rod, or tail domains of desmin (S46F, E245D, and T453I).
23615443
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Functional characterization of desmin mutant p.P419S.
23032110
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
CLINVAR
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
22484823
2013
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
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
1.000
GeneticVariation
disease
CLINVAR
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
22403400
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
22215463
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
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
1.000
CausalMutation
disease
CLINVAR
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
22403400
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
UNIPROT
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
22395865
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
BEFREE
We performed detailed genotype-phenotype analysis of autosomal dominant desminopathy associated with tail domain mutations in a four-generation autosomal dominant family with 16 members affected by a progressive cardiac and/or skeletal myopathy caused by a c.1346A>C (p.Lys449Thr ) mutation located in the tail domain of desmin .
23051780
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
22275259
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
23155419
2012
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
22106715
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
21262226
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
UNIPROT
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
22106715
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
Biomarker
disease
CTD_human
Desmin-related myopathy (DRM ) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES).
20718792
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
BEFREE
This study enlarges the spectrum of desmin mutations and geographic distribution of desminopathy .
20696008
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
CLINVAR
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
21262226
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
GeneticVariation
disease
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
1.000
Biomarker
disease
GENOMICS_ENGLAND
Desmin-related myopathy (DRM ) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES).
20718792
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
20448486
2010
×
Entrez Id:
1674
Gene Symbol:
DES
DES
1.000
CausalMutation
disease
CLINVAR
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
20423733
2010