Published in Science on February 28, 2003
Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet (2009) 5.20
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA (2005) 3.89
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet (2004) 2.85
Genetic causes of human heart failure. J Clin Invest (2005) 2.79
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest (2004) 2.67
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. J Clin Invest (2010) 2.64
A micropeptide encoded by a putative long noncoding RNA regulates muscle performance. Cell (2015) 2.63
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol (2009) 2.53
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci (2008) 2.17
Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol (2013) 2.09
Modulation of cardiac contractility by the phospholamban/SERCA2a regulatome. Circ Res (2012) 2.06
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A (2006) 2.05
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol (2011) 2.02
NMR solution structure and topological orientation of monomeric phospholamban in dodecylphosphocholine micelles. Biophys J (2003) 1.96
cAMP-dependent protein kinase A selects the excited state of the membrane substrate phospholamban. J Mol Biol (2011) 1.90
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med (2010) 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
Gene therapy in heart failure. Circ Res (2008) 1.79
Structure and topology of monomeric phospholamban in lipid membranes determined by a hybrid solution and solid-state NMR approach. Proc Natl Acad Sci U S A (2009) 1.79
The genetics of dilated cardiomyopathy. Curr Opin Cardiol (2010) 1.76
AKAP complex regulates Ca2+ re-uptake into heart sarcoplasmic reticulum. EMBO Rep (2007) 1.72
Long-term cardiac-targeted RNA interference for the treatment of heart failure restores cardiac function and reduces pathological hypertrophy. Circulation (2009) 1.71
Altered intracellular Ca2+ handling in heart failure. J Clin Invest (2005) 1.70
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70
Intermolecular failure of L-type Ca2+ channel and ryanodine receptor signaling in hypertrophy. PLoS Biol (2007) 1.70
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet (2006) 1.63
Cardiac-specific overexpression of sarcolipin inhibits sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA2a) activity and impairs cardiac function in mice. Proc Natl Acad Sci U S A (2004) 1.63
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail (2012) 1.51
A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia. Cardiovasc Res (2015) 1.46
Cardiac GPCRs: GPCR signaling in healthy and failing hearts. Biochim Biophys Acta (2007) 1.45
Mapping the interaction surface of a membrane protein: unveiling the conformational switch of phospholamban in calcium pump regulation. Proc Natl Acad Sci U S A (2005) 1.43
Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol (2007) 1.42
Sarcoplasmic reticulum Ca(2+) ATPase as a therapeutic target for heart failure. Expert Opin Biol Ther (2010) 1.41
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLoS Genet (2010) 1.37
Mechanisms of altered Ca²⁺ handling in heart failure. Circ Res (2013) 1.37
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet (2003) 1.37
(1)H/(15)N heteronuclear NMR spectroscopy shows four dynamic domains for phospholamban reconstituted in dodecylphosphocholine micelles. Biophys J (2004) 1.36
Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats. J Clin Invest (2004) 1.33
Endoplasmic-reticulum calcium depletion and disease. Cold Spring Harb Perspect Biol (2011) 1.31
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol (2008) 1.30
Pathway analysis of dilated cardiomyopathy using global proteomic profiling and enrichment maps. Proteomics (2010) 1.29
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. Proc Natl Acad Sci U S A (2006) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One (2009) 1.28
Cardiac-specific overexpression of sarcolipin in phospholamban null mice impairs myocyte function that is restored by phosphorylation. Proc Natl Acad Sci U S A (2006) 1.24
A novel custom resequencing array for dilated cardiomyopathy. Genet Med (2010) 1.18
The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. Mol Biol Cell (2008) 1.17
Sarcolipin and phospholamban as regulators of cardiac sarcoplasmic reticulum Ca2+ ATPase. J Mol Cell Cardiol (2007) 1.17
Ca2+ cycling and new therapeutic approaches for heart failure. Circulation (2010) 1.16
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet (2009) 1.15
Altered sarcoplasmic reticulum calcium cycling--targets for heart failure therapy. Nat Rev Cardiol (2012) 1.15
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. Proc Natl Acad Sci U S A (2011) 1.12
Phospholamban binds with differential affinity to calcium pump conformers. J Biol Chem (2011) 1.10
Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease. J Clin Invest (2009) 1.10
Timing in cellular Ca2+ signaling. Curr Biol (2008) 1.10
Role of sarco/endoplasmic reticulum calcium content and calcium ATPase activity in the control of cell growth and proliferation. Pflugers Arch (2008) 1.08
Phosphorylation of the cAMP-dependent protein kinase (PKA) regulatory subunit modulates PKA-AKAP interaction, substrate phosphorylation, and calcium signaling in cardiac cells. J Biol Chem (2008) 1.07
Intracellular devastation in heart failure. Heart Fail Rev (2008) 1.04
The alpha-helical propensity of the cytoplasmic domain of phospholamban: a molecular dynamics simulation of the effect of phosphorylation and mutation. Biophys J (2005) 1.04
Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy. Cell Stem Cell (2015) 1.03
Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet (2015) 1.02
Cardiac gene transfer of short hairpin RNA directed against phospholamban effectively knocks down gene expression but causes cellular toxicity in canines. Hum Gene Ther (2011) 1.01
Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues. J Cell Mol Med (2010) 1.01
TGF-β1-induced phospholamban expression alters esophageal smooth muscle cell contraction in patients with eosinophilic esophagitis. J Allergy Clin Immunol (2014) 1.01
The role of SERCA2a/PLN complex, Ca(2+) homeostasis, and anti-apoptotic proteins in determining cell fate. Pflugers Arch (2008) 0.99
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun (2015) 0.99
Structural basis for the high Ca2+ affinity of the ubiquitous SERCA2b Ca2+ pump. Proc Natl Acad Sci U S A (2009) 0.99
Discovery and characterization of smORF-encoded bioactive polypeptides. Nat Chem Biol (2015) 0.98
The Ca2+ pumps of the endoplasmic reticulum and Golgi apparatus. Cold Spring Harb Perspect Biol (2011) 0.97
A-kinase anchoring proteins: getting to the heart of the matter. Circulation (2010) 0.97
Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy. J Biol Chem (2011) 0.96
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. J Biol Chem (2012) 0.96
Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein-protein interaction analysis. Mol Biosyst (2011) 0.95
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. J Mol Cell Cardiol (2013) 0.95
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J (2013) 0.94
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. J Biol Chem (2012) 0.92
Genetics and disease of ventricular muscle. Cold Spring Harb Perspect Med (2014) 0.92
Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy. J Biol Chem (2011) 0.92
An allosteric mechanism inferred from molecular dynamics simulations on phospholamban pentamer in lipid membranes. PLoS One (2011) 0.91
Remodeling of calcium handling in human heart failure. Adv Exp Med Biol (2012) 0.91
Return of calcium: manipulating intracellular calcium to prevent cardiac pathologies. Proc Natl Acad Sci U S A (2004) 0.91
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. Hum Mutat (2008) 0.91
Expression and purification of isotopically labeled peptide inhibitors and substrates of cAMP-dependant protein kinase A for NMR analysis. Protein Expr Purif (2008) 0.91
Phosphorylated phospholamban stabilizes a compact conformation of the cardiac calcium-ATPase. Biophys J (2013) 0.91
Anchoring proteins as regulators of signaling pathways. Circ Res (2012) 0.89
Altered myocardial calcium cycling and energetics in heart failure-a rational approach for disease treatment. Cell Metab (2015) 0.89
Effect of membrane thickness on conformational sampling of phospholamban from computer simulations. Biophys J (2010) 0.89
Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend. J Mol Cell Cardiol (2014) 0.87
A network-oriented perspective on cardiac calcium signaling. Am J Physiol Cell Physiol (2012) 0.87
Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy. Mitochondrion (2011) 0.86
Rodent models of heart failure: an updated review. Heart Fail Rev (2013) 0.85
Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts. PLoS One (2012) 0.85
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
Tuning the structural coupling between the transmembrane and cytoplasmic domains of phospholamban to control sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) function. J Muscle Res Cell Motil (2012) 0.85
Structures of the excited states of phospholamban and shifts in their populations upon phosphorylation. Biochemistry (2013) 0.84
Recent advances in cardiovascular proteomics. J Proteomics (2012) 0.84
Cardiovascular gene therapy for myocardial infarction. Expert Opin Biol Ther (2013) 0.83
A-kinase anchoring proteins that regulate cardiac remodeling. J Cardiovasc Pharmacol (2011) 0.83
MicroRNAs in heart failure: Small molecules with major impact. Glob Cardiol Sci Pract (2014) 0.82
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
The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress. Nat Med (2007) 8.82
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
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
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
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
Phospholamban: a crucial regulator of cardiac contractility. Nat Rev Mol Cell Biol (2003) 5.05
The arrangement and rearrangement of antibody genes. Nature (1979) 4.88
Transcriptional coactivator PGC-1 alpha controls the energy state and contractile function of cardiac muscle. Cell Metab (2005) 4.65
PKC-alpha regulates cardiac contractility and propensity toward heart failure. Nat Med (2004) 4.50
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
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
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
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
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
A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A (2012) 3.72
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
Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. J Card Fail (2009) 3.54
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
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med (2016) 3.40
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
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet (2007) 3.08
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
Genetic causes of human heart failure. J Clin Invest (2005) 2.79
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
Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res (2005) 2.67
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. J Clin Invest (2010) 2.64
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest (2003) 2.56
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest (2000) 2.56
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation (2011) 2.53
Enhancement of cardiac function and suppression of heart failure progression by inhibition of protein phosphatase 1. Circ Res (2005) 2.52
Cardiac myosin binding protein C phosphorylation is cardioprotective. Proc Natl Acad Sci U S A (2006) 2.46
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
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation (2003) 2.28
AMP-activated protein kinase in the heart: role during health and disease. Circ Res (2007) 2.27
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet (2002) 2.27
The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest (2002) 2.26
A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet (1994) 2.26
A mutant immunoglobulin light chain is formed by aberrant DNA- and RNA-splicing events. Nature (1980) 2.25
Molecular map of the murine S region. Proc Natl Acad Sci U S A (1983) 2.24
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet (1994) 2.23