DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE Using reduced representation bisulfite sequencing, we found that although CRS did not lead to global changes in DNA methylation in the murine heart, it nevertheless altered methylation at specific genes that are associated with the dilated cardiomyopathy (DCM) (<i>e.g.</i>, desmin) and adrenergic signaling of cardiomyocytes (ASPC) (<i>e.g.</i>, adrenergic receptor-α1) pathways. 31431066 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 AlteredExpression disease BEFREE Patterns of desmin expression in idiopathic dilated cardiomyopathy are related to the desmin mRNA and ubiquitin expression. 30097466 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE Our study not only contributes to the genetic diagnosis and counseling of families with DCM, but it also further proves that DES mutations may lead to isolated DCM and provides a new case for the study of the relationship between DES mutations and DCM. 28171858 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 Biomarker disease BEFREE We investigated the expressional levels and subcellular localization of Yap1, Taz, and Tead1 and determined Hippo target gene expression in failing human hearts with ischemic heart disease (IHD) and idiopathic dilated cardiomyopathy (IDC) and mouse desmin-related cardiomyopathy (DES). 29154888 2017
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE Immunohistological and electron microscopy studies demonstrated diffuse abnormal DES aggregations in DCM-induced-pluripotent stem cell (iPSC)-derived cardiomyocytes, and control-iPSC-derived cardiomyocytes transduced with A285V-DES. 23300193 2013
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 Biomarker disease BEFREE We further show that desmin is a preferential target of advanced glycation end products (AGE) in mouse and human DCM. 21768101 2011
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 AlteredExpression disease BEFREE Removal of antibodies by IA modulates myocardial gene expression of desmin in DCM patients. 17924085 2007
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE The prevalence of DES mutations in DCM is between 1% and 2%, and mutations in the 1A helical domain, as well as the 2B rod domain, are capable of causing a DCM phenotype. 17325244 2007
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE The location of the E413K mutation at a highly conserved end of the alpha-helical rod domain may be related to the phenotypic differences from the previously described DCM-associated desmin mutations. 16890305 2007
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE Two genes have been identified for the X-linked forms (dystrophin and tafazzin), whereas three other genes (actin, lamin A/C, and desmin) cause autosomal dominant DCM; seven other loci for autosomal dominant DCM have been mapped but the genes have not been identified. 10974018 2000
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.100 GeneticVariation disease BEFREE Desmin mutation responsible for idiopathic dilated cardiomyopathy. 10430757 1999