DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease 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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease GENOMICS_ENGLAND Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. 29212896 2018
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease CTD_human 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease UNIPROT αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. 28470624 2017
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease 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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease CLINVAR Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. 26789769 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. 27393313 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease UNIPROT Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. 27733623 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease 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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease 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
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease CLINGEN Desmin in muscle and associated diseases: beyond the structural function. 25358400 2015
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease UNIPROT The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR Autophagic vacuolar pathology in desminopathies. 25557463 2015
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease MGD The toxic effect of R350P mutant desmin in striated muscle of man and mouse. 25394388 2015
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease BEFREE Here, we describe and comprehensively characterize two DES mutations found in Polish patients with a clinical diagnosis of desminopathy. 25541946 2014
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709 2013
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 Biomarker disease BEFREE N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy. 24098483 2013
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease UNIPROT A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. 23687351 2013
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 CausalMutation disease CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
1.000 GeneticVariation disease CLINVAR Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. 23425003 2013