Hypertrophic cardiomyopathy: from genetics to treatment.

Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy. Circ Res (2012) 2.25

Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95

Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol (2011) 1.55

Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res (2011) 1.31

Proteasome functional insufficiency in cardiac pathogenesis. Am J Physiol Heart Circ Physiol (2011) 1.11

Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy. Appl Clin Genet (2014) 0.94

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet (2011) 0.93

The ubiquitin-proteasome system and cardiovascular disease. Prog Mol Biol Transl Sci (2012) 0.93

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts. Eur J Hum Genet (2012) 0.92

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res (2012) 0.90

Cardiomyopathies: Evolution of pathogenesis concepts and potential for new therapies. World J Cardiol (2014) 0.85

Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. Arch Biochem Biophys (2016) 0.82

Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing. J Transl Med (2014) 0.82

New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling. J Biol Chem (2013) 0.81

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. Pflugers Arch (2013) 0.80

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). Eur J Hum Genet (2011) 0.79

Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders. J Am Coll Cardiol (2016) 0.79

Implanted defibrillators in young hypertrophic cardiomyopathy patients: a multicenter study. Pediatr Cardiol (2013) 0.76

Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype. Front Physiol (2016) 0.76

Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients? World J Cardiol (2014) 0.76

MRI classification of asymmetric septal hypertrophic cardiomyopathy and its relation to the presence of risk factors. Int J Cardiovasc Imaging (2012) 0.76

Hypertrophic Cardiomyopathy in a Young Adult with RV Aneurysm: Report of a Rare Finding and Review of the Literature. Heart Views (2011) 0.75

miR-155 functions downstream of angiotensin II receptor subtype 1 and calcineurin to regulate cardiac hypertrophy. Exp Ther Med (2016) 0.75

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. Front Physiol (2017) 0.75

Vps34 regulates myofibril proteostasis to prevent hypertrophic cardiomyopathy. JCI Insight (2017) 0.75

Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model. Biophys J (2017) 0.75

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24

Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA (1996) 7.03

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation (1995) 6.55

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell (2002) 4.72

Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation (2009) 4.57

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med (2001) 4.46

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med (1995) 4.37

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med (1998) 4.29

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20

Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med (2000) 4.04

Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med (2000) 3.99

Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med (2005) 3.71

Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet (1995) 3.67

Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation (2001) 3.33

Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA (2007) 3.32

Asymmetric septal hypertrophy. Echocardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation (1973) 3.31

Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation (2001) 3.21

Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation (2002) 3.20

Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet (2001) 3.02

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.97

Role of oxidative stress in cardiac hypertrophy and remodeling. Hypertension (2006) 2.59

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet (2001) 2.56

IDIOPATHIC HYPERTROPHIC SUBAORTIC STENOSIS. I. A DESCRIPTION OF THE DISEASE BASED UPON AN ANALYSIS OF 64 PATIENTS. Circulation (1964) 2.56

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 2.49

Developmental and functional adaptation of contractile proteins in cardiac and skeletal muscles. Physiol Rev (1986) 2.46

Outcome of alcohol septal ablation for obstructive hypertrophic cardiomyopathy. Circulation (2008) 2.42

Hemogynamic alterations in idiopathic hypertrophic subaortic stenosis induced by sympathomimetic drugs. Am J Cardiol (1962) 2.42

Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures. Am J Physiol Heart Circ Physiol (2006) 2.37

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation (2001) 2.25

Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation (2001) 2.23

A transgenic rabbit model for human hypertrophic cardiomyopathy. J Clin Invest (1999) 2.19

Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. J Am Coll Cardiol (2003) 2.10

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res (2005) 2.08

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol (2001) 1.97

Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. J Clin Invest (1999) 1.95

The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. Nat Med (1999) 1.93

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation (2002) 1.91

Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal study. J Am Coll Cardiol (1990) 1.91

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol (2004) 1.79

Prognosis in hypertrophic cardiomyopathy observed in a large clinic population. Am J Cardiol (1993) 1.77

A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.77

Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. Circulation (2004) 1.72

Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol (1984) 1.67

Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation (2003) 1.56

Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation (2004) 1.53

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res (2007) 1.51

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. J Biol Chem (2000) 1.51

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci U S A (2002) 1.49

Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47

High-dose oral N-acetylcysteine, a glutathione prodrug, modulates inflammation in cystic fibrosis. Proc Natl Acad Sci U S A (2006) 1.47

Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants. J Am Coll Cardiol (1990) 1.35

Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome. J Clin Invest (1996) 1.35

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol (2000) 1.35

Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circ Res (2005) 1.34

Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. Cardiovasc Res (2008) 1.33

Resolution of established cardiac hypertrophy and fibrosis and prevention of systolic dysfunction in a transgenic rabbit model of human cardiomyopathy through thiol-sensitive mechanisms. Circulation (2009) 1.30

Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function. Proc Natl Acad Sci U S A (1998) 1.29

Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice. J Physiol (2001) 1.29

F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers. J Biol Chem (2005) 1.28

Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families. Br Heart J (1987) 1.27

Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. J Biol Chem (2004) 1.26

Antifibrotic effects of antioxidant N-acetylcysteine in a mouse model of human hypertrophic cardiomyopathy mutation. J Am Coll Cardiol (2006) 1.25

Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Mol Genet (2007) 1.23

Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins. J Clin Invest (1999) 1.22

Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation (1995) 1.21

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. J Biol Chem (1999) 1.21

Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiol (2003) 1.15

Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Investig Med (1997) 1.15

Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy. J Biol Chem (1999) 1.13

Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication. J Clin Invest (1997) 1.12

Contemporary treatment of hypertrophic cardiomyopathy. Tex Heart Inst J (2009) 1.12

Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol (2005) 1.10

Independent FHC-related cardiac troponin T mutations exhibit specific alterations in myocellular contractility and calcium kinetics. J Mol Cell Cardiol (2007) 1.08

Evolution of expression of cardiac phenotypes over a 4-year period in the beta-myosin heavy chain-Q403 transgenic rabbit model of human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2004) 1.03

Alcohol septal ablation versus surgical septal myectomy: comparison of effects on atrioventricular conduction tissue. J Am Coll Cardiol (2004) 1.00

Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart (2004) 0.98

Molecular mechanisms of cardiac myofilament activation: modulation by pH and a troponin T mutant R92Q. Basic Res Cardiol (2002) 0.98

Differential effect of troponin T mutations on the inotropic responsiveness of mouse hearts--role of myofilament Ca2+ sensitivity increase. J Physiol (2006) 0.98

Dynamic subaortic obstruction in hypertrophic cardiomyopathy: analysis by pulsed Doppler echocardiography. J Am Coll Cardiol (1985) 0.98

Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol (2000) 0.97

The sarcomere and the nucleus: functional links to hypertrophy, atrophy and sarcopenia. Adv Exp Med Biol (2008) 0.96

Hypertrophic obstructive cardiomyopathy. Assessment by echocardiographic and Doppler ultrasound techniques. Br Heart J (1975) 0.94

Left ventricular filling in hypertrophic cardiomyopathy: a pulsed Doppler echocardiographic study. J Am Coll Cardiol (1986) 0.93

Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. J Biochem (2000) 0.91

Diagnosis of hypertrophic subaortic stenosis with a Doppler velocity flow detector. Ann Intern Med (1971) 0.90

Experimental therapies in hypertrophic cardiomyopathy. J Cardiovasc Transl Res (2009) 0.90

Effects of missense mutations Phe110Ile and Glu244Asp in human cardiac troponin T on force generation in skinned cardiac muscle fibers. J Biochem (1999) 0.86

Functional changes in troponin T by a splice donor site mutation that causes hypertrophic cardiomyopathy. Am J Physiol (1999) 0.86

IDIOPATHIC HYPERTROPHIC SUBAORTIC STENOSIS. II. OPERATIVE TREATMENT AND THE RESULTS OF PRE- AND POSTOPERATIVE HEMODYNAMIC EVALUATIONS. Circulation (1964) 0.85

Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. Biochem Biophys Res Commun (1999) 0.84

On predictors of sudden cardiac death in hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 0.83

Identifying modifier loci in existing genome scan data. Ann Hum Genet (2008) 0.82

Current status of alcohol septal ablation for patients with hypertrophic cardiomyopathy. Curr Cardiol Rep (2001) 0.79