rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
|
28470624 |
2017 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
|
27733623 |
2016 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs267607490
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Autophagic vacuolar pathology in desminopathies.
|
25557463 |
2015 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
|
25394388 |
2015 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
|
25313375 |
2014 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
|
23687351 |
2013 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nebulin binding impedes mutant desmin filament assembly.
|
23615443 |
2013 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
|
22395865 |
2012 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
|
22106715 |
2011 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
|
20423733 |
2010 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
"Mutations in desmin's carboxy-terminal ""tail"" domain severely modify filament and network mechanics."
|
20171226 |
2010 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
|
20448486 |
2010 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Except for two different DES mutations (p.N342D and p.R454W) in two families with DRM and severe biventricular cardiomyopathy, respectively, we did not find additional DES mutations in ARVC(-like) patients.
|
20423733 |
2010 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
|
20829228 |
2010 |
rs267607490
|
|
|
0.810 |
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 |
rs267607490
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
|
17221859 |
2007 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
|
16865695 |
2006 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |
rs267607490
|
|
|
0.810 |
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 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
|
14648196 |
2004 |
rs267607490
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
|
14711882 |
2004 |