|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
|
27760138 |
2016 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
|
10580070 |
1999 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.
|
18031519 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LMNA was significantly underexpressed in mRNA from peripheral blood and myocardium of DCM(LMNAMut) patients versus DCM(LMNAWT) and CTRL(LMNAWT).
|
23062543 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
|
10579712 |
1999 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
CTD_human |
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
|
15996213 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.
|
22773734 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA chromatin immunoprecipitation-sequencing, reduced representative bisulfite sequencing, and RNA-sequencing were performed in 5 control and 5 LMNA-associated DCM hearts.
|
30739589 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.
|
31303467 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Therefore, we conclude that NMD is not sufficient to completely prevent the expression of truncated lamin A and that even trace amounts of it may negatively interfere with structural and/or regulatory functions of lamin A/C eventually leading to the development of DCM and rhythm disturbances.
|
17987279 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
LMNA mutations cause DCM with conduction and/or rhythm defects.
|
23575224 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
|
15548545 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
CTD_human |
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
|
10580070 |
1999 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA‐related DCM was modeled in‐vitro using patient‐specific iPSC‐CMs.
|
23362510 |
2012 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild.
|
29175975 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
MGD |
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.
|
15972724 |
2005 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have previously described 19 pedigrees with apparent lamin (<i>LMNA</i>)-related dilated cardiomyopathy (DCM) manifesting in affected family members across multiple generations.
|
30012837 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
We suggest following these proteins as putative biomarkers for the evaluation of DCM status in LMNA mutation carriers.
|
27457270 |
2016 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM.
|
23463027 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Longitudinal retrospective observational studies were conducted with 27 consecutive families in which LMNA gene defects were identified in the probands, all sharing the DCM phenotype.
|
18926329 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, our findings suggest that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM and point to PDGF receptor-β (PDGFRB) as a potential therapeutic target.
|
31316208 |
2019 |