Search Results - "Olson, Timothy M"
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Human KATP channelopathies: diseases of metabolic homeostasis
Published in Pflügers Archiv (01-07-2010)“…Assembly of an inward rectifier K + channel pore (Kir6.1/Kir6.2) and an adenosine triphosphate (ATP)-binding regulatory subunit (SUR1/SUR2A/SUR2B) forms…”
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Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
Published in Journal of the American College of Cardiology (01-09-2009)“…Objectives We sought to identify a novel gene for dilated cardiomyopathy (DCM). Background DCM is a heritable, genetically heterogeneous disorder that remains…”
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RG flows in d dimensions, the dilaton effective action, and the a-theorem
Published in The journal of high energy physics (01-03-2013)“…A bstract Motivated by the recent dilaton-based proof of the 4d a -theorem, we study the dilaton effective action for RG flows in d dimensions. When d is even,…”
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Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation
Published in Human molecular genetics (15-07-2006)“…Atrial fibrillation is a rhythm disorder characterized by chaotic electrical activity of cardiac atria. Predisposing to stroke and heart failure, this common…”
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Idiopathic Restrictive Cardiomyopathy in Children and Young Adults
Published in The American journal of cardiology (15-05-2018)“…Idiopathic restrictive cardiomyopathy (IRC) is a rare condition characterized by reduced ventricular compliance. Children with IRC have poor outcomes with most…”
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Cardiac Transcriptome and Dilated Cardiomyopathy Genes in Zebrafish
Published in Circulation. Cardiovascular genetics (01-04-2015)“…BACKGROUND—Genetic studies of cardiomyopathy and heart failure have limited throughput in mammalian models. Adult zebrafish have been recently pursued as a…”
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Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation
Published in The New England journal of medicine (10-07-2008)“…In a family with hereditary atrial fibrillation, linkage analysis and candidate-gene sequencing identified a frameshift mutation in the atrial natriuretic…”
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Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy
Published in Human molecular genetics (15-07-2014)“…Dilated cardiomyopathy (DCM) due to mutations in RBM20, a gene encoding an RNA-binding protein, is associated with high familial penetrance, risk of…”
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Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation
Published in JAMA : the journal of the American Medical Association (26-01-2005)“…CONTEXT Dilated cardiomyopathy (DCM), a genetically heterogeneous disorder, causes heart failure and rhythm disturbances. The majority of identified DCM genes…”
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Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Published in eLife (05-07-2023)“…Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic…”
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Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Published in eLife (02-10-2020)“…Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary…”
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Whole Genome Sequencing in Hypoplastic Left Heart Syndrome
Published in Journal of cardiovascular development and disease (15-04-2022)“…Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants…”
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Transcriptional atlas of cardiogenesis maps congenital heart disease interactome
Published in Physiological genomics (01-07-2014)“…Mammalian heart development is built on highly conserved molecular mechanisms with polygenetic perturbations resulting in a spectrum of congenital heart…”
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TFEB Overexpression, Not mTOR Inhibition, Ameliorates RagCS75Y Cardiomyopathy
Published in International journal of molecular sciences (23-05-2021)“…A de novo missense variant in Rag GTPase protein C (RagCS75Y) was recently identified in a syndromic dilated cardiomyopathy (DCM) patient. However, its…”
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TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy
Published in Human molecular genetics (01-11-2014)“…Locus mapping has uncovered diverse etiologies for familial atrial fibrillation (AF), dilated cardiomyopathy (DCM), and mixed cardiac phenotype syndromes, yet…”
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A Genetic Variant of the Atrial Natriuretic Peptide Gene Is Associated With Cardiometabolic Protection in the General Community
Published in Journal of the American College of Cardiology (02-08-2011)“…Objectives We sought to define the cardiometabolic phenotype associated with rs5068, a genetic variant of the atrial natriuretic peptide (ANP) gene. Background…”
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Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome
Published in The American journal of cardiology (01-12-2015)“…Obstructive left-sided congenital heart lesions exhibit familial clustering, and familial echocardiographic screening for bicuspid aortic valve has become…”
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Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
Published in Journal of cardiovascular development and disease (08-08-2017)“…Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. DCM typically remains clinically…”
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ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
Published in Nature genetics (01-04-2004)“…Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent…”
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