Published in Circ Res on March 01, 1997
The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest (1999) 2.02
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. Circ Res (2011) 1.81
A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.65
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein. J Clin Invest (1997) 1.36
Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms. Cardiovasc Res (2009) 1.18
The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy. Cardiovasc Res (2009) 1.16
Cardiac myosin binding protein-C: redefining its structure and function. Biophys Rev (2012) 1.15
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet (1999) 1.15
Mechanical unfolding of cardiac myosin binding protein-C by atomic force microscopy. Biophys J (2011) 1.03
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.00
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. J Med Genet (1998) 0.97
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet (1999) 0.95
Cardiac myosin binding protein C insufficiency leads to early onset of mechanical dysfunction. Circ Cardiovasc Imaging (2011) 0.92
Earning stripes: myosin binding protein-C interactions with actin. Pflugers Arch (2014) 0.92
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92
Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol (2014) 0.92
Dissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice. Circulation (2012) 0.89
A novel variant of cardiac myosin-binding protein-C that is unable to assemble into sarcomeres is expressed in the aged mouse atrium. Mol Biol Cell (2003) 0.89
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. Hum Mol Genet (2013) 0.88
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet (2010) 0.86
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. J Cell Physiol (2011) 0.85
Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle. J Muscle Res Cell Motil (2012) 0.85
On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture. J Am Coll Cardiol (2001) 0.84
Cardiac myosin binding protein-C plays no regulatory role in skeletal muscle structure and function. PLoS One (2013) 0.84
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. J Gen Physiol (2013) 0.83
Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles. Front Physiol (2013) 0.82
Blood pressure and heart rate QTL in mice of the B6/D2 lineage: sex differences and environmental influences. Physiol Genomics (2008) 0.81
Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C). J Biomol NMR (2004) 0.80
MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. Pflugers Arch (2013) 0.80
To screen or not is not the question--it is when and how to screen. Circulation (2003) 0.79
In vivo definition of cardiac myosin-binding protein C's critical interactions with myosin. Pflugers Arch (2016) 0.78
Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations. Pflugers Arch (2013) 0.77
Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy. Can J Cardiol (2010) 0.77
Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes. J Mol Cell Cardiol (2016) 0.76
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. PLoS One (2016) 0.75
Empower multiplex cell and tissue-specific CRISPR-mediated gene manipulation with self-cleaving ribozymes and tRNA. Nucleic Acids Res (2016) 0.75
Missing pieces: myosin binding protein C truncations in familial hypertrophic cardiomyopathy. Circ Res (1997) 0.75
A One Health Approach to Hypertrophic Cardiomyopathy. Yale J Biol Med (2017) 0.75
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proc Natl Acad Sci U S A (2017) 0.75
Sequence specific resonance assignment of the central domain of cardiac myosin binding protein C (MyBP-C). J Biomol NMR (2002) 0.75
Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy. Medicine (Baltimore) (2017) 0.75
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Effect of nesiritide in patients with acute decompensated heart failure. N Engl J Med (2011) 7.62
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
The lux autoinducer regulates the production of exoenzyme virulence determinants in Erwinia carotovora and Pseudomonas aeruginosa. EMBO J (1993) 5.35
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Cloning of the T gene required in mesoderm formation in the mouse. Nature (1990) 4.20
The EuroHeart Failure survey programme-- a survey on the quality of care among patients with heart failure in Europe. Part 1: patient characteristics and diagnosis. Eur Heart J (2003) 4.09
Predicting sudden death in the population: the Paris Prospective Study I. Circulation (1999) 3.80
Aspergillosis complicating neoplastic disease. Am J Med (1973) 3.80
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet (1997) 3.79
The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res (2001) 3.68
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Adaptive wavelet thresholding for image denoising and compression. IEEE Trans Image Process (2000) 3.67
Field gradients improve resolution on DNA sequencing gels. J Biochem Biophys Methods (1984) 3.37
Exaggerated anesthetic requirements in the preferentially anesthetized brain. Anesthesiology (1993) 3.37
Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev (2006) 3.30
Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J (1995) 3.28
An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. Am J Hum Genet (1989) 3.13
Circulating nonesterified fatty acid level as a predictive risk factor for sudden death in the population. Circulation (2001) 3.12
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
Kinetic characterization and cross-resistance patterns of HIV-1 protease mutants selected under drug pressure. Biochemistry (1995) 2.90
Myosin isoenzyme redistribution in chronic heart overload. Nature (1979) 2.89
Elevated levels of interleukin 6 are reduced in serum and subcutaneous adipose tissue of obese women after weight loss. J Clin Endocrinol Metab (2000) 2.88
Three myosin heavy-chain isozymes appear sequentially in rat muscle development. Nature (1981) 2.88
The EuroHeart Failure Survey programme--a survey on the quality of care among patients with heart failure in Europe. Part 2: treatment. Eur Heart J (2003) 2.78
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest (1999) 2.77
Differences between patients with a preserved and a depressed left ventricular function: a report from the EuroHeart Failure Survey. Eur Heart J (2004) 2.73
Myoblast transplantation for heart failure. Lancet (2001) 2.71
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Quantitative changes in T helper or T suppressor/cytotoxic lymphocyte subsets that distinguish acquired immune deficiency syndrome from other immune subset disorders. Am J Med (1984) 2.60
A comparison of knee joint motion patterns between men and women in selected athletic tasks. Clin Biomech (Bristol, Avon) (2001) 2.56
Starting to unravel the toxoglossan knot: molecular phylogeny of the "turrids" (Neogastropoda: Conoidea). Mol Phylogenet Evol (2007) 2.55
Changes in titin and collagen underlie diastolic stiffness diversity of cardiac muscle. J Mol Cell Cardiol (2000) 2.54
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet (2000) 2.52
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Relation between sexual practices and T-cell subsets in homosexually active men. Lancet (1983) 2.46
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40
Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity. Circ Res (2000) 2.39
Myosin heavy chain messenger RNA and protein isoform transitions during cardiac hypertrophy. Interaction between hemodynamic and thyroid hormone-induced signals. J Clin Invest (1987) 2.37
Differential expression of cardiac titin isoforms and modulation of cellular stiffness. Circ Res (2000) 2.28
Long-term outcome in asymptomatic men with exercise-induced premature ventricular depolarizations. N Engl J Med (2000) 2.28
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Atrial natriuretic factor elicits an endothelium-independent relaxation and activates particulate guanylate cyclase in vascular smooth muscle. Proc Natl Acad Sci U S A (1984) 2.26
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
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
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children. Eur Heart J (1998) 2.20
Myosin isoenzyme changes in several models of rat cardiac hypertrophy. Circ Res (1981) 2.20
Cervical dystonia: clinical findings and associated movement disorders. Neurology (1991) 2.16
Inhibitory action of chlorpromazine, dibucaine, and other phospholipid-interacting drugs on calcium-activated, phospholipid-dependent protein kinase. J Biol Chem (1980) 2.15
Basic ADL disability and functional limitation rates among older AMERICANS from 2000-2005: the end of the decline? J Gerontol A Biol Sci Med Sci (2009) 2.14
Subxiphoid pericardiocentesis guided by contrast two-dimensional echocardiography in cardiac tamponade: experience of 110 consecutive patients. Eur J Echocardiogr (2000) 2.13
Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12
Towards a molecular understanding of the elasticity of titin. J Mol Biol (1996) 2.12
Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet (2000) 2.08
Invasive aspergillosis. Progress in early diagnosis and treatment. Am J Med (1981) 2.07
Protein kinase A phosphorylates titin's cardiac-specific N2B domain and reduces passive tension in rat cardiac myocytes. Circ Res (2002) 2.07
Muscle assembly: a titanic achievement? Curr Opin Cell Biol (1999) 2.07
Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. J Mol Biol (2001) 2.05
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci (2001) 2.05
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation (1998) 2.04
DNA from soil mirrors plant taxonomic and growth form diversity. Mol Ecol (2012) 2.03
Regional specificity of brain atrophy in Huntington's disease. Exp Neurol (1998) 2.02
Carbapenem antibiotic production in Erwinia carotovora is regulated by CarR, a homologue of the LuxR transcriptional activator. Microbiology (1995) 1.98
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol (2001) 1.97
Altered sarcoplasmic reticulum Ca2(+)-ATPase gene expression in the human ventricle during end-stage heart failure. J Clin Invest (1990) 1.94
Titin extensibility in situ: entropic elasticity of permanently folded and permanently unfolded molecular segments. J Cell Biol (1998) 1.93
Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res (1998) 1.92