Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Identification of ubiquitin ligases required for skeletal muscle atrophy.
|
11679633 |
2001 |
Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I.
|
15601779 |
2004 |
Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
CLINGEN |
To determine the pathogenic role of TRIM63 in human hypertrophic cardiomyopathy (HCM).
|
22821932 |
2012 |
Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
CLINGEN |
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
|
25801283 |
2015 |
Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Muscular Atrophy
|
0.510 |
Biomarker
|
phenotype |
RGD |
Identification of ubiquitin ligases required for skeletal muscle atrophy.
|
11679633 |
2001 |
Muscular Dystrophy
|
0.200 |
Biomarker
|
disease |
RGD |
Noninvasive imaging of in vivo MuRF1 expression during muscle atrophy.
|
24710205 |
2014 |
Muscular Atrophy
|
0.510 |
AlteredExpression
|
phenotype |
LHGDN |
In catabolic states where proteolysis is increased, two genes specific to muscle atrophy, MuRf1 and MAFbx, are upregulated.
|
17977773 |
2008 |
Chronic Obstructive Airway Disease
|
0.020 |
AlteredExpression
|
disease |
LHGDN |
An increase in atrogin-1 and MuRF1 mRNA and FoxO-1 protein content was observed in the quadriceps of patients with COPD.
|
17478621 |
2007 |
QRS complex feature
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
52 Genetic Loci Influencing Myocardial Mass.
|
27659466 |
2016 |
Muscular Atrophy
|
0.510 |
Biomarker
|
phenotype |
CTD_human |
Ouabain exacerbates botulinum neurotoxin-induced muscle paralysis via progression of muscle atrophy in mice.
|
21139329 |
2010 |
Cardiomegaly
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Cardiomyopathies, Primary
|
0.300 |
Therapeutic
|
group |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Myocardial Diseases, Secondary
|
0.300 |
Therapeutic
|
group |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Neurogenic Muscular Atrophy
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Ouabain exacerbates botulinum neurotoxin-induced muscle paralysis via progression of muscle atrophy in mice.
|
21139329 |
2010 |
Atrophic
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Cardiomyopathies
|
0.300 |
Therapeutic
|
group |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Cardiac Hypertrophy
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
Muscle ring finger 1 mediates cardiac atrophy in vivo.
|
19168726 |
2009 |
Hypertrophic Cardiomyopathy
|
0.640 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hypertrophic Cardiomyopathy
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
TRIM63 mutations, identified in patients with HCM, impart loss-of-function effects on E3 ligase activity and are probably causal mutations in HCM.
|
22821932 |
2012 |
Hypertrophic Cardiomyopathy
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.
|
24436435 |
2014 |
Hypertrophic Cardiomyopathy
|
0.640 |
Biomarker
|
disease |
BEFREE |
These findings implicate an impaired interaction between titin and MURF1 as a novel mechanism underlying the pathogenesis of HCM.
|
31628103 |
2019 |
Hypertrophic Cardiomyopathy
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
These data strongly supported that rare variants in MuRF1 and MuRF2 are associated with higher penetrance and more severe clinical manifestations of HCM.
|
24865491 |
2014 |
Diabetes Mellitus
|
0.040 |
Biomarker
|
group |
BEFREE |
Consequently, we confirmed reduced activity of mTOR signaling components and higher expression of atrophy-related markers typified by FoxO1/atrogin-1/MuRF1 and myostatin-Smad2/3 signaling during the course of diabetes.
|
30510624 |
2018 |
Diabetes Mellitus
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Under various pathophysiological muscle-wasting conditions, such as diabetes and starvation, a family of ubiquitin ligases, including muscle-specific RING-finger protein 1 (MuRF1), are induced to target muscle proteins for degradation via ubiquitination.
|
18468620 |
2008 |