×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
BEFREE
We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin .
30179276 2019
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
GENOMICS_ENGLAND
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
29212896 2018
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
CTD_human
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
30055862 2018
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257 2017
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
28470624 2017
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
BEFREE
The expression patterns of protein associated with MPTP indicate that desmin might affect MPTP complex as potential targets involved in mitochondrial dysfunction in desminopathy .
27719747 2017
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
CLINVAR
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.
26789769 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
27393313 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
27733623 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
BEFREE
Meanwhile apoptosis related proteins bax and ATF2 were involved in desminopathy patients and desminopathy rat model, but not bcl-2, bcl-xl or HK2.VDAC1 and desmin are closely relevant in the tissue splices of deminopathies patients and rats with desminopathy at protein lever.
27941998 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
BEFREE
To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin , the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy .
27440146 2016
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
CLINGEN
Desmin in muscle and associated diseases: beyond the structural function.
25358400 2015
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388 2015
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388 2015
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
Autophagic vacuolar pathology in desminopathies.
25557463 2015
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
MGD
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
25394388 2015
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
BEFREE
Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy .
25541946 2014
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
Biomarker
BEFREE
N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy .
24098483 2013
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
23687351 2013
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
CausalMutation
CLINVAR
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
23349452 2013
×
Entrez Id: 1674
Gene Symbol: DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
CLINVAR
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
23425003 2013