Published in Cell on June 03, 1994
Genetic Analysis of Familial Hypertrophic Cardiomyopathy | NCT00005251
Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J (1995) 3.28
The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab (2005) 2.72
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol (1996) 2.27
Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev (2005) 2.10
Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. J Clin Invest (1996) 2.09
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet (1997) 1.97
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. J Clin Invest (1999) 1.95
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol (2004) 1.92
Genetics of human cardiovascular disease. Cell (2012) 1.90
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol (2010) 1.83
A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.77
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. Biophys J (2001) 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
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1995) 1.70
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70
A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest (1998) 1.65
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res (2011) 1.58
Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest (1996) 1.57
Thin filament mutations: developing an integrative approach to a complex disorder. Circ Res (2011) 1.55
Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol (2011) 1.55
Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol Med (1996) 1.54
Low-grade inflammation and the phenotypic expression of myocardial fibrosis in hypertrophic cardiomyopathy. Heart (2012) 1.54
Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. J Clin Invest (1998) 1.47
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. J Am Coll Cardiol (2014) 1.47
Altered patterns of cardiac intercellular junction distribution in hypertrophic cardiomyopathy. Heart (1996) 1.41
Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray. Am J Pathol (2002) 1.38
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest (1995) 1.37
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
Genetic determinants of cardiac hypertrophy. Curr Opin Cardiol (2008) 1.35
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. Cardiovasc Res (2008) 1.33
Developmental genetic analysis of troponin T mutations in striated and nonstriated muscle cells of Caenorhabditis elegans. J Cell Biol (1996) 1.30
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol (2008) 1.30
Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet (1995) 1.29
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
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet (2013) 1.27
A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res (2000) 1.26
Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins. J Clin Invest (1999) 1.22
Dynamic regulation of sarcomeric actin filaments in striated muscle. Cytoskeleton (Hoboken) (2010) 1.17
Hypertrophic cardiomyopathy: from genetics to treatment. Eur J Clin Invest (2010) 1.17
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol (2006) 1.16
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
Vertebrate isoforms of actin capping protein beta have distinct functions In vivo. J Cell Biol (1999) 1.15
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart (1999) 1.14
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest (1997) 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
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation. J Physiol (2008) 1.11
Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin. Biophys J (2004) 1.10
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet (2008) 1.08
Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations. Biophys J (2011) 1.08
The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin. Biochemistry (2004) 1.06
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest (1996) 1.06
Effects of R92 mutations in mouse cardiac troponin T are influenced by changes in myosin heavy chain isoform. J Mol Cell Cardiol (2012) 1.04
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. Biophys J (1998) 1.04
Sudden death from cardiovascular disease in young athletes: fact or fiction? Br J Sports Med (1997) 1.03
Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy. J Cell Biol (2004) 1.03
Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. Dis Model Mech (2011) 1.03
Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet (2015) 1.02
Alterations in flight muscle ultrastructure and function in Drosophila tropomyosin mutants. J Cell Biol (1996) 1.01
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet (1997) 1.01
The athlete's heart: is big beautiful? Br J Sports Med (1996) 1.01
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart (1998) 1.00
Genes and physiology: molecular physiology in genetically engineered animals. J Clin Invest (1996) 1.00
Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies. J Clin Invest (2003) 0.99
Troponin T is essential for sarcomere assembly in zebrafish skeletal muscle. J Cell Sci (2011) 0.97
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. J Med Genet (1998) 0.97
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. J Mol Biol (2012) 0.97
Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes. J Mol Cell Cardiol (2010) 0.96
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. BMC Genomics (2001) 0.96
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
Hypertrophic cardiomyopathy. Heart Fail Clin (2010) 0.95
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. Circ Cardiovasc Genet (2012) 0.94
Inherited cardiomyopathies caused by troponin mutations. J Geriatr Cardiol (2013) 0.94
A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila. Mol Biol Cell (2001) 0.94
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. J Clin Invest (1999) 0.94
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. Curr Mol Med (2012) 0.94
Development of electrocardiogram intervals during growth of FVB/N neonate mice. BMC Physiol (2010) 0.94
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J (2013) 0.94
Ca2+ and ionic strength dependencies of S1-ADP binding to actin-tropomyosin-troponin: regulatory implications. Biophys J (2004) 0.93
Ca2+-dependent muscle dysfunction caused by mutation of the Caenorhabditis elegans troponin T-1 gene. J Cell Biol (1998) 0.92
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. PLoS One (2013) 0.92
Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein. J Mol Cell Cardiol (2011) 0.92
Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene. Heart (1996) 0.91
Charged residue changes in the carboxy-terminus of alpha-tropomyosin alter mouse cardiac muscle contractility. J Physiol (2004) 0.91
Loss of the AE3 anion exchanger in a hypertrophic cardiomyopathy model causes rapid decompensation and heart failure. J Mol Cell Cardiol (2010) 0.91
Cardiac MRI assessed left ventricular hypertrophy in differentiating hypertensive heart disease from hypertrophic cardiomyopathy attributable to a sarcomeric gene mutation. Eur Radiol (2011) 0.91
Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin. J Biomed Biotechnol (2011) 0.90
Myocardial fibrosis detected by cardiac CT predicts ventricular fibrillation/ventricular tachycardia events in patients with hypertrophic cardiomyopathy. J Cardiovasc Comput Tomogr (2013) 0.89
Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve (2010) 0.89
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. Biochemistry (2012) 0.88
Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy. Prog Pediatr Cardiol (2011) 0.88
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. Arch Biochem Biophys (2016) 0.87
Genomics of heart failure. Heart Fail Clin (2010) 0.87
2008 Riley Heart Center Symposium on cardiac development: growth and morphogenesis of the ventricular wall. Pediatr Cardiol (2009) 0.86
Sequences of five potential recombination sites encoded close to an immunoglobulin kappa constant region gene. Proc Natl Acad Sci U S A (1979) 9.31
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation (1996) 9.00
Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments. Cell (1980) 8.77
Identification of a putative second T-cell receptor. Nature (1986) 7.90
Production of homozygous mutant ES cells with a single targeting construct. Mol Cell Biol (1992) 7.23
Mouse beta 2-microglobulin cDNA clones: a screening procedure for cDNA clones corresponding to rare mRNAs. Proc Natl Acad Sci U S A (1981) 6.67
A kappa-immunoglobulin gene is formed by site-specific recombination without further somatic mutation. Nature (1979) 6.54
Action of nicking-closing enzyme on supercoiled and nonsupercoiled closed circular DNA: formation of a Boltzmann distribution of topological isomers. Proc Natl Acad Sci U S A (1975) 6.26
Incorporation of phosphorothioate groups into fd and phi X174 DNA. Biochemistry (1977) 6.10
Truncations of titin causing dilated cardiomyopathy. N Engl J Med (2012) 6.07
Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science (1998) 5.98
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell (2001) 5.77
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell (1990) 5.77
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61
Cloning specific segments of the mammalian genome: bacteriophage lambda containing mouse globin and surrounding gene sequences. Proc Natl Acad Sci U S A (1977) 5.28
Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science (2007) 5.19
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet (1997) 5.11
Antibody diversity. Science (1978) 5.06
The arrangement and rearrangement of antibody genes. Nature (1979) 4.88
DNA synthesis in nucleotide-permeable Escherichia coli cells. I. Preparation and properties of ether-treated cells. J Mol Biol (1971) 4.65
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med (1995) 4.37
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
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med (1992) 4.20
The management of hypertrophic cardiomyopathy. N Engl J Med (1997) 4.15
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell (1993) 4.13
Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene. Proc Natl Acad Sci U S A (1978) 4.02
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Multiple related immunoglobulin variable-region genes identified by cloning and sequence analysis. Proc Natl Acad Sci U S A (1978) 3.88
A T-cell receptor gamma/CD3 complex found on cloned functional lymphocytes. Nature (1987) 3.81
Structure and expression of a mouse major histocompatibility antigen gene, H-2Ld. Proc Natl Acad Sci U S A (1982) 3.73
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science (2003) 3.71
Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med (2005) 3.71
A mouse model of familial hypertrophic cardiomyopathy. Science (1996) 3.69
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med (2010) 3.42
High capacity gel preparative electrophoresis for purification of fragments of genomic DNA. Anal Biochem (1978) 3.42
Transcription of mouse kappa chain genes: implications for allelic exclusion. Proc Natl Acad Sci U S A (1980) 3.38
Two forms of the T-cell receptor gamma protein found on peripheral blood cytotoxic T lymphocytes. Nature (1987) 3.37
The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet (2005) 3.36
Exon shuffling: mapping polymorphic determinants on hybrid mouse transplantation antigens. Nature (1982) 3.34
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet (1996) 3.24
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation (2002) 3.20
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet (1995) 3.18
Prognosis in hypertrophic cardiomyopathy: role of age and clinical, electrocardiographic and hemodynamic features. Am J Cardiol (1981) 3.12
DNA topoisomerases: enzymes that control DNA conformation. Curr Top Microbiol Immunol (1985) 3.10
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.97
Structure of wild-type and mutant mouse beta 2-microglobulin genes. Cell (1982) 2.97
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest (1999) 2.95
Progression to diabetes in nonobese diabetic (NOD) mice with transgenic T cell receptors. Science (1993) 2.94
Shared human T cell receptor V beta usage to immunodominant regions of myelin basic protein. Science (1990) 2.86
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) N Engl J Med (1994) 2.82
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods (2009) 2.71
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A (1999) 2.70
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67
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
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest (2000) 2.56
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Delay to invasive investigation and revascularisation for coronary heart disease in south west Thames region: a two tier system? BMJ (1991) 2.48
Expression of H-2Dd and H-2Ld mouse major histocompatibility antigen genes in L cells after DNA-mediated gene transfer. J Immunol (1983) 2.45
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis. Nat Genet (2012) 2.39
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Res (2000) 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
Direct sequencing of polymerase chain reaction amplified DNA fragments through the incorporation of deoxynucleoside alpha-thiotriphosphates. Nucleic Acids Res (1988) 2.28
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation (2003) 2.28
Isolation and partial characterisation of the relaxation protein from nuclei of cultured mouse and human cells. Eur J Biochem (1975) 2.27
AMP-activated protein kinase in the heart: role during health and disease. Circ Res (2007) 2.27
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest (2002) 2.26