Published in J Clin Invest on January 01, 1994
Genetic Analysis of Familial Hypertrophic Cardiomyopathy | NCT00005251
The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83
Genetic causes of human heart failure. J Clin Invest (2005) 2.79
Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation (2010) 2.15
Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. J Clin Invest (2011) 1.84
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.77
Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest (1995) 1.75
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J Clin Invest (2011) 1.39
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
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. Biophys J (2009) 1.28
Mutation of the myosin converter domain alters cross-bridge elasticity. Proc Natl Acad Sci U S A (2002) 1.24
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
Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med (2010) 1.07
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart (1998) 1.00
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. Basic Res Cardiol (2011) 0.98
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92
Alternative exon 9-encoded relay domains affect more than one communication pathway in the Drosophila myosin head. J Mol Biol (2009) 0.92
β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. Circ Res (2014) 0.91
Myocardial fibrosis detected by cardiac CT predicts ventricular fibrillation/ventricular tachycardia events in patients with hypertrophic cardiomyopathy. J Cardiovasc Comput Tomogr (2013) 0.89
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. Int J Mol Med (2016) 0.88
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
Multiple disease genes cause hypertrophic cardiomyopathy. Br Heart J (1994) 0.84
VIP gene deletion in mice causes cardiomyopathy associated with upregulation of heart failure genes. PLoS One (2013) 0.83
Molecular basis of hypertrophic and dilated cardiomyopathy. Tex Heart Inst J (1994) 0.83
From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy. Heart (2004) 0.82
Counselling issues in familial hypertrophic cardiomyopathy. J Med Genet (1998) 0.81
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. Heart (2015) 0.78
Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy. Heart (1997) 0.77
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. Heart Vessels (2016) 0.76
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J Inherit Metab Dis (2000) 0.76
Molecular biology of heart disease. World J Cardiol (2011) 0.75
The devil's in the details: progress in familial hypertrophic cardiomyopathy. J Clin Invest (1994) 0.75
Cardiac Magnetic Resonance and Computed Tomography in Hypertrophic Cardiomyopathy: an Update. Arq Bras Cardiol (2016) 0.75
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study. Front Genet (2016) 0.75
Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. Medicine (Baltimore) (2017) 0.75
Cardiac arrest and hypertrophic cardiomyopathy. Role of the implantable defibrillator. BMJ (1994) 0.75
Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy. Sci Adv (2017) 0.75
Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J Inherit Metab Dis (1997) 0.75
Precision medicine approach to genetic cardiomyopathy. Herz (2017) 0.75
A One Health Approach to Hypertrophic Cardiomyopathy. Yale J Biol Med (2017) 0.75
Three-dimensional structure of myosin subfragment-1: a molecular motor. Science (1993) 14.90
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med (1987) 14.37
Structure of the actin-myosin complex and its implications for muscle contraction. Science (1993) 11.30
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A (1988) 6.46
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. Circulation (1992) 2.67
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med (1991) 2.11
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest (1993) 2.04
Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol (1993) 1.68
The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics (1990) 1.67
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62
Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly. Cell (1990) 1.59
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet (1993) 1.58
A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet (1993) 1.57
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A (1993) 1.47
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest (1992) 1.30
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. Br Heart J (1993) 1.15
Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem Biophys Res Commun (1992) 1.12
Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy. J Clin Invest (1992) 1.03
Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population. Circulation (1991) 1.02
Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy. J Clin Invest (1992) 1.01
FAMILIAL CARDIOMYOPATHY. Am Heart J (1965) 0.88
Familial cardiomyopathy in a Milwaukee family. Wis Med J (1972) 0.79
Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell (1998) 12.66
Oncoprotein MDM2 is a ubiquitin ligase E3 for tumor suppressor p53. FEBS Lett (1997) 11.19
A highly sensitive method to assay FK-506 levels in plasma. Transplant Proc (1987) 8.45
Vascular and upper gastrointestinal effects of non-steroidal anti-inflammatory drugs: meta-analyses of individual participant data from randomised trials. Lancet (2013) 8.16
Blockade of RAGE-amphoterin signalling suppresses tumour growth and metastases. Nature (2000) 6.70
Autocrine generation and requirement of BSF-2/IL-6 for human multiple myelomas. Nature (1988) 5.60
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet (2000) 4.54
Differentiation of heart failure related to dilated cardiomyopathy and coronary artery disease using gadolinium-enhanced cardiovascular magnetic resonance. Circulation (2003) 4.48
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
The relation of patients age, sex and distance from surgery to the demand on the family doctor. J R Coll Gen Pract (1968) 4.44
Origin of osteoclasts: mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells. Proc Natl Acad Sci U S A (1990) 4.40
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med (1995) 4.37
X-ray diffraction evidence for the extensibility of actin and myosin filaments during muscle contraction. Biophys J (1994) 4.37
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet (1994) 4.36
Regular aerobic exercise prevents and restores age-related declines in endothelium-dependent vasodilation in healthy men. Circulation (2000) 4.32
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med (2000) 4.30
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med (1998) 4.29
The management of hypertrophic cardiomyopathy. N Engl J Med (1997) 4.15
Simultaneous observation of individual ATPase and mechanical events by a single myosin molecule during interaction with actin. Cell (1998) 3.79
The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution. Neuron (2001) 3.68
Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol (1997) 3.64
Signal transduction in hypoxic cells: inducible nuclear translocation and recruitment of the CBP/p300 coactivator by the hypoxia-inducible factor-1alpha. EMBO J (1998) 3.63
Interleukin-6 deficient mice are protected from bone loss caused by estrogen depletion. EMBO J (1994) 3.60
Rapid detection and evaluation of clinical characteristics of emerging multiple-drug-resistant gram-negative rods carrying the metallo-beta-lactamase gene blaIMP. Antimicrob Agents Chemother (1998) 3.57
Diagnostic criteria for primary osteoporosis: year 2000 revision. J Bone Miner Metab (2001) 3.43
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet (1994) 3.39
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation (2002) 3.22
Prostaglandin D2 as a mediator of allergic asthma. Science (2000) 3.19
Electric and magnetic phenomena observed before the volcano-seismic activity in 2000 in the Izu Island Region, Japan. Proc Natl Acad Sci U S A (2002) 3.18
Unaltered secretion of beta-amyloid precursor protein in gelatinase A (matrix metalloproteinase 2)-deficient mice. J Biol Chem (1997) 3.09
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
Side effects of long-term amiodarone therapy. Circulation (1983) 3.03
Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet (2001) 3.02
Corticotropin releasing hormone and proopiomelanocortin involvement in the cutaneous response to stress. Physiol Rev (2000) 2.98
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.97
Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J (2001) 2.93
Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol (2000) 2.89
Retracted Comparison of ramosetron and granisetron for preventing postoperative nausea and vomiting after gynecologic surgery. Anesth Analg (1999) 2.85
Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest (1997) 2.85
Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression. Nature (2001) 2.83
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet (2001) 2.79
In vitro activities of a new lipopeptide antifungal agent, FK463, against a variety of clinically important fungi. Antimicrob Agents Chemother (2000) 2.73
Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle. J Biochem (1995) 2.69
Novel organ-specific circulating cardiac autoantibodies in dilated cardiomyopathy. J Am Coll Cardiol (1990) 2.67
Programmable matter by folding. Proc Natl Acad Sci U S A (2010) 2.65
Severity of airflow limitation is associated with severity of airway inflammation in smokers. Am J Respir Crit Care Med (1998) 2.62
Redox-regulated recruitment of the transcriptional coactivators CREB-binding protein and SRC-1 to hypoxia-inducible factor 1alpha. Mol Cell Biol (2000) 2.61
Marriage, monogamy and HIV: a profile of HIV-infected women in south India. Int J STD AIDS (2000) 2.59
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet (1995) 2.57
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
Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation (1999) 2.56
Cardiac fatigue following prolonged endurance exercise of differing distances. Med Sci Sports Exerc (2000) 2.47
Overtime work, insufficient sleep, and risk of non-fatal acute myocardial infarction in Japanese men. Occup Environ Med (2002) 2.43
Limb blood flow and vascular conductance are reduced with age in healthy humans: relation to elevations in sympathetic nerve activity and declines in oxygen demand. Circulation (1999) 2.40
Gene cloning of chitinase A1 from Bacillus circulans WL-12 revealed its evolutionary relationship to Serratia chitinase and to the type III homology units of fibronectin. J Biol Chem (1990) 2.38
Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet (1993) 2.38
Brachial-ankle pulse wave velocity: an index of central arterial stiffness? J Hum Hypertens (2005) 2.36
Phenotypic difference of normal plasma cells from mature myeloma cells. Blood (1993) 2.35
Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele-specific transcriptional regulation. J Biol Chem (2000) 2.35
Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a two-dimensional echocardiographic study. J Am Coll Cardiol (1983) 2.34
Electrocardiographic changes in 1000 highly trained junior elite athletes. Br J Sports Med (1999) 2.32
Control of cell pattern in the developing nervous system: polarizing activity of the floor plate and notochord. Cell (1991) 2.31
Complexes of HIV-1 reverse transcriptase with inhibitors of the HEPT series reveal conformational changes relevant to the design of potent non-nucleoside inhibitors. J Med Chem (1996) 2.29
Identification of glutamic acid 204 and aspartic acid 200 in chitinase A1 of Bacillus circulans WL-12 as essential residues for chitinase activity. J Biol Chem (1993) 2.28
Expression of inducible nitric oxide synthase in human heart failure. Circulation (1996) 2.26
Hemicrania continua: ten new cases and a review of the literature. Neurology (1994) 2.26
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J (1999) 2.24
Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography. Heart (2004) 2.22
Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia. Br Heart J (1985) 2.22
Left ventricular remodeling after myocardial infarction: a corollary to infarct expansion. Circulation (1986) 2.22
1 alpha,25-Dihydroxyvitamin D3 induces differentiation of human myeloid leukemia cells. Biochem Biophys Res Commun (1981) 2.21
Evaluation of topical pharyngeal anesthesia for upper endoscopy including factors associated with patient tolerance. Gastrointest Endosc (2001) 2.19
The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet (1993) 2.18
A randomized controlled trial of epoprostenol therapy for severe congestive heart failure: The Flolan International Randomized Survival Trial (FIRST). Am Heart J (1997) 2.16
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation (1995) 2.15
New and reliable MRI diagnosis for progressive supranuclear palsy. Neurology (2005) 2.14
Evidence for HTLV-III infection in prostitutes in Tamil Nadu (India). Indian J Med Res (1987) 2.13
Interactions of Porphyromonas gingivalis with epithelial cells. Infect Immun (1993) 2.12
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med (1991) 2.11
Transcriptional regulation of the cyclin D1 promoter by STAT5: its involvement in cytokine-dependent growth of hematopoietic cells. EMBO J (1999) 2.10
Potent and selective inhibition of human immunodeficiency virus type 1 (HIV-1) by 5-ethyl-6-phenylthiouracil derivatives through their interaction with the HIV-1 reverse transcriptase. Proc Natl Acad Sci U S A (1991) 2.08
Sudden death due to troponin T mutations. J Am Coll Cardiol (1997) 2.07
Increasing numbers of synaptic puncta during late-phase LTP: N-cadherin is synthesized, recruited to synaptic sites, and required for potentiation. Neuron (2000) 2.07
Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol (1998) 2.03
Adenylate cyclases in yeast: a comparison of the genes from Schizosaccharomyces pombe and Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (1989) 2.01
Evaluation of epidermal growth factor receptor mutation status in serum DNA as a predictor of response to gefitinib (IRESSA). Br J Cancer (2007) 2.00
Modulation of EphA receptor function by coexpressed ephrinA ligands on retinal ganglion cell axons. Neuron (1999) 1.97
Expression and function of the Delta-1/Notch-2/Hes-1 pathway during experimental acute kidney injury. Kidney Int (2008) 1.97
Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy. Heart (2007) 1.97
Laparoscopic removal of a large gastric trichobezoar. J Pediatr Surg (1998) 1.96
Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population. N Engl J Med (1989) 1.96
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet (1998) 1.91
Arrhythmia in hypertrophic cardiomyopathy. I: Influence on prognosis. Br Heart J (1981) 1.91
The roles of the C-terminal domain and type III domains of chitinase A1 from Bacillus circulans WL-12 in chitin degradation. J Bacteriol (1994) 1.91
Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal study. J Am Coll Cardiol (1990) 1.91
Deficiency of osteoclasts in osteopetrotic mice is due to a defect in the local microenvironment provided by osteoblastic cells. Endocrinology (1991) 1.90