Search Results - "Hall, Amelia W"
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Transcriptional and Cellular Diversity of the Human Heart
Published in Circulation (New York, N.Y.) (04-08-2020)“…BACKGROUND:The human heart requires a complex ensemble of specialized cell types to perform its essential function. A greater knowledge of the intricate…”
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Conserved properties of individual Ca2+-binding sites in calmodulin
Published in Proceedings of the National Academy of Sciences - PNAS (01-03-2016)“…Calmodulin (CaM) is a Ca2+-sensing protein that is highly conserved and ubiquitous in eukaryotes. In humans it is a locus of life-threatening cardiomyopathies…”
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3
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
Published in Nature communications (21-03-2023)“…Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the…”
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4
Single-nucleus RNA sequencing in ischemic cardiomyopathy reveals common transcriptional profile underlying end-stage heart failure
Published in Cell reports (Cambridge) (28-02-2023)“…Ischemic cardiomyopathy (ICM) is the leading cause of heart failure worldwide, yet the cellular and molecular signature of this disease is largely unclear…”
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5
Increased atrial effectiveness of flecainide conferred by altered biophysical properties of sodium channels
Published in Journal of molecular and cellular cardiology (01-05-2022)“…Atrial fibrillation (AF) affects over 1% of the population and is a leading cause of stroke and heart failure in the elderly. A feared side effect of sodium…”
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Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank
Published in Circulation research (17-01-2020)“…Genome-wide association studies have identified over 100 genetic loci for atrial fibrillation (AF); recent work described an association between…”
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Deep learning enables genetic analysis of the human thoracic aorta
Published in Nature genetics (01-01-2022)“…Enlargement or aneurysm of the aorta predisposes to dissection, an important cause of sudden death. We trained a deep learning model to evaluate the dimensions…”
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8
Epigenetic and Transcriptional Networks Underlying Atrial Fibrillation
Published in Circulation research (19-06-2020)“…Genome-wide association studies have uncovered over a 100 genetic loci associated with atrial fibrillation (AF), the most common arrhythmia. Many of the top…”
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Long-range Pitx2c enhancer–promoter interactions prevent predisposition to atrial fibrillation
Published in Proceedings of the National Academy of Sciences - PNAS (05-11-2019)“…Genome-wide association studies found that increased risk for atrial fibrillation (AF), the most common human heart arrhythmia, is associated with noncoding…”
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10
Monogenic and Polygenic Contributions to QTc Prolongation in the Population
Published in Circulation (New York, N.Y.) (17-05-2022)“…Rare sequence variation in genes underlying cardiac repolarization and common polygenic variation influence QT interval duration. However, current clinical…”
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11
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes
Published in Nature communications (30-08-2022)“…Accurate and efficient classification of variant pathogenicity is critical for research and clinical care. Using data from three large studies, we demonstrate…”
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Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes
Published in Nature communications (30-09-2022)Get full text
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13
EF hands at the N-lobe of calmodulin are required for both SK channel gating and stable SK-calmodulin interaction
Published in The Journal of general physiology (01-10-2009)“…Small conductance calcium-activated potassium (SK) channels respond to intracellular Ca(2+) via constitutively associated calmodulin (CaM). Previous studies…”
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Novel association of polymorphic genetic variants with predictors of outcome of catheter ablation in atrial fibrillation: new directions from a prospective study (DECAF)
Published in Journal of interventional cardiac electrophysiology (01-01-2016)“…Purpose Non-pulmonary vein (non-PV) triggers and left atrial (LA) scars perpetuate atrial fibrillation (AF) and limit the success rate of catheter ablation. In…”
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NOVEL ASSOCIATION OF POLYMORPHIC GENETIC VARIANTS WITH PREDICTORS OF OUTCOME OF CATHETER ABLATION IN ATRIAL FIBRILLATION: NEW DIRECTIONS FROM A PROSPECTIVE STUDY (DECAF)
Published in Journal of the American College of Cardiology (17-03-2015)“…Multivariate logistic regression analysis (adjusted covariates: age, gender, LA size, hypertension and diabetes) was used for assessing predictive role of…”
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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Published in Nature genetics (01-03-2022)“…Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete…”
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17
Deep learning enables genetic analysis of the human thoracic aorta
Published in Nature genetics (01-01-2022)“…Enlargement or aneurysm of the aorta predisposes to dissection, an important cause of sudden death. We trained a deep learning model to evaluate the dimensions…”
Get full text
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18
Conserved properties of individual Ca^sup 2+^-binding sites in calmodulin
Published in Proceedings of the National Academy of Sciences - PNAS (01-03-2016)“…Calmodulin (CaM) is a Ca2+-sensing protein that is highly conserved and ubiquitous in eukaryotes. In humans it is a locus of life-threatening cardiomyopathies…”
Get full text
Journal Article -
19
Conserved properties of individual Ca 2+ -binding sites in calmodulin
Published in Proceedings of the National Academy of Sciences - PNAS (01-03-2016)“…Significance Calmodulin is essential for sensing intracellular Ca 2+ in eukaryotic cells. Calmodulin modulates hundreds of effectors, and it has a highly…”
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20
Conserved properties of individual Ca super( 2+)-binding sites in calmodulin
Published in Proceedings of the National Academy of Sciences - PNAS (01-03-2016)“…Calmodulin (CaM) is a Ca2+-sensing protein that is highly conserved and ubiquitous in eukaryotes. In humans it is a locus of life-threatening cardiomyopathies…”
Get full text
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