Published in Trends Genet on May 01, 2003
Toward transcriptional therapies for the failing heart: chemical screens to modulate genes. J Clin Invest (2005) 2.65
Energy metabolism in heart failure. J Physiol (2003) 2.10
Arthrogryposis: a review and update. J Bone Joint Surg Am (2009) 2.04
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. Circ Res (2011) 1.81
Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor. Circ Res (2012) 1.69
Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol (2011) 1.55
Transcriptomic profiling of the canine tachycardia-induced heart failure model: global comparison to human and murine heart failure. J Mol Cell Cardiol (2005) 1.54
The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. J Physiol (2008) 1.14
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy. PLoS Genet (2010) 1.13
A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science (2016) 1.11
Increased myofilament Ca2+-sensitivity and arrhythmia susceptibility. J Mol Cell Cardiol (2010) 1.11
Update on hypertrophic cardiomyopathy and a guide to the guidelines. Nat Rev Cardiol (2016) 1.11
Increased susceptibility to isoproterenol-induced cardiac hypertrophy and impaired weight gain in mice lacking the histidine-rich calcium-binding protein. Mol Cell Biol (2006) 1.02
Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2010) 1.02
In vivo alterations in cardiac metabolism and function in the spontaneously hypertensive rat heart. Cardiovasc Res (2012) 1.01
Inhibition of c-Jun-N-terminal kinase increases cardiac peroxisome proliferator-activated receptor alpha expression and fatty acid oxidation and prevents lipopolysaccharide-induced heart dysfunction. J Biol Chem (2011) 1.00
Targets for therapy in sarcomeric cardiomyopathies. Cardiovasc Res (2015) 0.96
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J (2012) 0.96
Blunted myocardial oxygenation response during vasodilator stress in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2013) 0.95
ENerGetIcs in hypertrophic cardiomyopathy: traNslation between MRI, PET and cardiac myofilament function (ENGINE study). Neth Heart J (2013) 0.94
Myocardial oxidative stress, osteogenic phenotype, and energy metabolism are differentially involved in the initiation and early progression of delta-sarcoglycan-null cardiomyopathy. Mol Cell Biochem (2008) 0.94
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. J Biol Chem (2011) 0.91
Mechanisms of pro-arrhythmic abnormalities in ventricular repolarisation and anti-arrhythmic therapies in human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2015) 0.90
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet (2009) 0.90
The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium. Basic Res Cardiol (2009) 0.87
Heterogeneity of intramural function in hypertrophic cardiomyopathy: mechanistic insights from MRI late gadolinium enhancement and high-resolution displacement encoding with stimulated echoes strain maps. Circ Cardiovasc Imaging (2011) 0.87
Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. Int J Cardiol (2013) 0.87
Effects of low-level α-myosin heavy chain expression on contractile kinetics in porcine myocardium. Am J Physiol Heart Circ Physiol (2011) 0.85
Cardiac metabolism in hypertrophy and heart failure: implications for therapy. Heart Fail Rev (2013) 0.85
Ablation of cardiac myosin-binding protein-C accelerates contractile kinetics in engineered cardiac tissue. J Gen Physiol (2013) 0.85
Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility. Arch Biochem Biophys (2016) 0.82
Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation? J Muscle Res Cell Motil (2014) 0.82
Cardiac troponin T mutations promote life-threatening arrhythmias. J Clin Invest (2008) 0.82
Hypertrophic cardiomyopathy: a heart in need of an energy bar? Front Physiol (2014) 0.82
Mechanical and energetic properties of papillary muscle from ACTC E99K transgenic mouse models of hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol (2013) 0.81
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy. J Med Genet (2013) 0.81
Titin mutations: the fall of Goliath. Heart Fail Rev (2015) 0.81
Myosin binding protein C: implications for signal-transduction. J Muscle Res Cell Motil (2011) 0.79
Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes. J Mol Cell Cardiol (2016) 0.78
Hypertrophic cardiomyopathy: how do mutations lead to disease? Arq Bras Cardiol (2014) 0.78
Towards causally cohesive genotype-phenotype modelling for characterization of the soft-tissue mechanics of the heart in normal and pathological geometries. J R Soc Interface (2015) 0.77
Comparative analysis of changes of myocardial angiogenesis and energy metabolism in postinfarction and diabetic damage of rat heart. J Diabetes Res (2014) 0.77
Regulation of mitochondrial ATP synthase in cardiac pathophysiology. Am J Cardiovasc Dis (2015) 0.77
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C. PLoS One (2013) 0.77
Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput? Circ Res (2013) 0.76
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy. PLoS One (2015) 0.76
Insights and challenges in hypertrophic cardiomyopathy, 2012. Herzschrittmacherther Elektrophysiol (2012) 0.75
HEART DISEASE. Throttling back the heart's molecular motor. Science (2016) 0.75
The role of super-relaxed myosin in skeletal and cardiac muscle. Biophys Rev (2014) 0.75
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus (2017) 0.75
Delineation of Molecular Pathways Involved in Cardiomyopathies Caused by Troponin T Mutations. Mol Cell Proteomics (2016) 0.75
Myocardial energy depletion and dynamic systolic dysfunction in hypertrophic cardiomyopathy. Nat Rev Cardiol (2016) 0.75
A One Health Approach to Hypertrophic Cardiomyopathy. Yale J Biol Med (2017) 0.75
Emerging pharmacologic and structural therapies for hypertrophic cardiomyopathy. Heart Fail Rev (2017) 0.75
Lipidomics reveals accumulation of the oxidized cholesterol in erythrocytes of heart failure patients. Redox Biol (2017) 0.75
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. PLoS One (2017) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med (2009) 8.73
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol (2005) 5.63
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA (2009) 5.32
Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. Lancet (2010) 5.31
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J (2014) 5.21
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. Lancet (2012) 4.63
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet (2007) 4.09
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Current state of knowledge on aetiology, diagnosis, management, and therapy of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Working Group on peripartum cardiomyopathy. Eur J Heart Fail (2010) 3.90
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med (2016) 3.88
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
Modernising medical careers, medical training application service, and the postgraduate medical education and training board: time for the emperors to don their clothes. Lancet (2007) 3.12
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy. Circ Cardiovasc Imaging (2012) 3.01
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies. Lancet (2004) 2.55
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol (2004) 2.40
Cardiac myosin binding protein C: its role in physiology and disease. Circ Res (2004) 2.38
Inherited cardiomyopathies. N Engl J Med (2011) 2.25
Genetically determined height and coronary artery disease. N Engl J Med (2015) 2.24
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study. J Am Coll Cardiol (2013) 2.18
Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. Circ Res (2002) 2.13
Reduced phospholamban phosphorylation is associated with impaired relaxation in left ventricular myocytes from neuronal NO synthase-deficient mice. Circ Res (2007) 2.07
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy. Circulation (2010) 1.96
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J Am Coll Cardiol (2003) 1.84
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol (2011) 1.84
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol (2010) 1.83
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res (2009) 1.83
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res (2007) 1.80
Personalized medicine: hope or hype? Eur Heart J (2012) 1.80
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res (2002) 1.77
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet (2009) 1.71
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem (2005) 1.70
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Subunit composition of AMPK trimers present in the cytokinetic apparatus: Implications for drug target identification. Cell Cycle (2012) 1.57
Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging. Circulation (2007) 1.54
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. Circ Res (2009) 1.52
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke (2013) 1.51
Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart. J Mol Cell Cardiol (2012) 1.45
Blood pressure loci identified with a gene-centric array. Am J Hum Genet (2011) 1.44
Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol (2007) 1.42
DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. Eur Heart J (2010) 1.40
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. J Biol Chem (2002) 1.37
Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway. Cell Metab (2012) 1.35
Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice. Circulation (2005) 1.33
Supranormal myocardial creatine and phosphocreatine concentrations lead to cardiac hypertrophy and heart failure: insights from creatine transporter-overexpressing transgenic mice. Circulation (2005) 1.30
Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17. PLoS Genet (2006) 1.29
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet (2006) 1.29
Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy. Circ Res (2011) 1.28
Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Med (2012) 1.27
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J (2006) 1.27
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. Blood (2012) 1.26
A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein. Atherosclerosis (2005) 1.26
Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension. Eur Heart J (2008) 1.25
Truncated estrogen receptor alpha 46-kDa isoform in human endothelial cells: relationship to acute activation of nitric oxide synthase. Circulation (2003) 1.25
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod (2008) 1.23
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat (2011) 1.20
Mutations in GRIP1 cause Fraser syndrome. J Med Genet (2012) 1.20
Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis. Stroke (2005) 1.16
The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments. J Biol Chem (2007) 1.15
AMP-activated protein kinase phosphorylates cardiac troponin I and alters contractility of murine ventricular myocytes. Circ Res (2012) 1.14
Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism. J Am Coll Cardiol (2012) 1.14