×
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
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
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
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
GeneticVariation
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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
22106715
2011
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
20829228
2010
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
19879535
2009
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Mutations in the intermediate filament (IF) protein desmin (DES ), a major cytoskeletal component of myocytes, lead to severe forms of "desminopathy ," which affects cardiac, skeletal, and smooth muscle.
17221859
2007
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
16376610
2006
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Mutations in the desmin gene have been recognized as a cause of desminopathy , a familial or sporadic disorder characterized by skeletal muscle weakness, often associated with cardiomyopathy or respiratory insufficiency.
16865695
2006
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
15800015
2005
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
16009553
2005
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy , a disease characterized by progressive limb muscle weakness and accumulation of desmin -reactive granular aggregates in the myofibers.
14648196
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Desminopathies in muscle disease.
15495235
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
14711882
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Desmin myopathy.
14724127
2004
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
12766977
2003
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Structural and functional analysis of a new desmin variant causing desmin-related myopathy .
11668632
2001
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
10905661
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
11061256
2000
×
Entrez Id:
1674
Gene Symbol:
DES
DES
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000
GeneticVariation
UNIPROT
We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myopathy and 2 patients with sporadic disease and analyzed the desmin gene for mutations, using complementary DNA (cDNA) amplified from muscle-biopsy specimens and genomic DNA extracted from blood lymphocytes.
10717012
2000