Published in EMBO J on May 01, 1995
The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol (2001) 2.83
Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res (2005) 2.67
Molecular mechanics of cardiac myosin-binding protein C in native thick filaments. Science (2012) 2.48
Cardiac myosin binding protein C phosphorylation is cardioprotective. Proc Natl Acad Sci U S A (2006) 2.46
Top-down high-resolution mass spectrometry of cardiac myosin binding protein C revealed that truncation alters protein phosphorylation state. Proc Natl Acad Sci U S A (2009) 2.10
Acceleration of crossbridge kinetics by protein kinase A phosphorylation of cardiac myosin binding protein C modulates cardiac function. Circ Res (2008) 2.07
Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle. Proc Natl Acad Sci U S A (1996) 2.02
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest (1999) 2.02
Direct visualization of myosin-binding protein C bridging myosin and actin filaments in intact muscle. Proc Natl Acad Sci U S A (2011) 1.83
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. Circ Res (2011) 1.81
Differential roles of regulatory light chain and myosin binding protein-C phosphorylations in the modulation of cardiac force development. J Physiol (2010) 1.76
Beta-adrenergic receptor signaling in the heart: role of CaMKII. J Mol Cell Cardiol (2009) 1.65
Effect of MyBP-C binding to actin on contractility in heart muscle. J Gen Physiol (2003) 1.62
A critical function for Ser-282 in cardiac Myosin binding protein-C phosphorylation and cardiac function. Circ Res (2011) 1.61
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res (2011) 1.58
Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle. J Mol Biol (2008) 1.57
Protein kinase A-mediated phosphorylation of cMyBP-C increases proximity of myosin heads to actin in resting myocardium. Circ Res (2008) 1.55
Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev (2005) 1.54
Cardiac myosin binding protein-C phosphorylation in a {beta}-myosin heavy chain background. Circulation (2009) 1.52
Changes in cardiac contractility related to calcium-mediated changes in phosphorylation of myosin-binding protein C. Biophys J (2001) 1.52
Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling. J Biol Chem (2009) 1.47
Orientation of myosin binding protein C in the cardiac muscle sarcomere determined by domain-specific immuno-EM. J Mol Biol (2014) 1.43
Roles of phosphorylation of myosin binding protein-C and troponin I in mouse cardiac muscle twitch dynamics. J Physiol (2004) 1.40
Unique single molecule binding of cardiac myosin binding protein-C to actin and phosphorylation-dependent inhibition of actomyosin motility requires 17 amino acids of the motif domain. J Mol Cell Cardiol (2011) 1.40
Electron microscopy and 3D reconstruction of F-actin decorated with cardiac myosin-binding protein C (cMyBP-C). J Mol Biol (2011) 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
Comprehensive analysis of protein modifications by top-down mass spectrometry. Circ Cardiovasc Genet (2011) 1.34
Multiple structures of thick filaments in resting cardiac muscle and their influence on cross-bridge interactions. Biophys J (2001) 1.32
Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck? J Biol Chem (2011) 1.31
Phosphorylation of cardiac Myosin-binding protein-C is a critical mediator of diastolic function. Circ Heart Fail (2015) 1.29
Identification of novel protein kinase A phosphorylation sites in the M-domain of human and murine cardiac myosin binding protein-C using mass spectrometry analysis. J Proteome Res (2010) 1.28
Myosin binding protein C interaction with actin: characterization and mapping of the binding site. J Biol Chem (2010) 1.27
Binding of the N-terminal fragment C0-C2 of cardiac MyBP-C to cardiac F-actin. J Struct Biol (2010) 1.26
Atomic model of the human cardiac muscle myosin filament. Proc Natl Acad Sci U S A (2012) 1.23
Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1. J Mol Biol (2008) 1.22
The contribution of cardiac myosin binding protein-c Ser282 phosphorylation to the rate of force generation and in vivo cardiac contractility. J Physiol (2014) 1.20
Signaling and myosin-binding protein C. J Biol Chem (2011) 1.18
Contribution of the myosin binding protein C motif to functional effects in permeabilized rat trabeculae. J Gen Physiol (2008) 1.16
Cardiac myosin binding protein-C: redefining its structure and function. Biophys Rev (2012) 1.15
Stage-specific changes in myofilament protein phosphorylation following myocardial infarction in mice. J Mol Cell Cardiol (2009) 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
Oxidative stress and sarcomeric proteins. Circ Res (2013) 1.15
Roles for cardiac MyBP-C in maintaining myofilament lattice rigidity and prolonging myosin cross-bridge lifetime. Biophys J (2011) 1.11
Thick filament proteins and performance in human heart failure. Heart Fail Rev (2005) 1.11
Myosin-binding protein C displaces tropomyosin to activate cardiac thin filaments and governs their speed by an independent mechanism. Proc Natl Acad Sci U S A (2014) 1.10
Cardiac MyBP-C regulates the rate and force of contraction in mammalian myocardium. Circ Res (2015) 1.08
GSK3β phosphorylates newly identified site in the proline-alanine-rich region of cardiac myosin-binding protein C and alters cross-bridge cycling kinetics in human: short communication. Circ Res (2012) 1.07
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC Med Genet (2008) 1.06
The cAMP binding protein Epac regulates cardiac myofilament function. Proc Natl Acad Sci U S A (2009) 1.05
Tri-modal regulation of cardiac muscle relaxation; intracellular calcium decline, thin filament deactivation, and cross-bridge cycling kinetics. Biophys Rev (2014) 1.05
Diastolic myofilament dysfunction in the failing human heart. Pflugers Arch (2011) 1.05
Novel role for p90 ribosomal S6 kinase in the regulation of cardiac myofilament phosphorylation. J Biol Chem (2010) 1.05
The structure of isolated cardiac Myosin thick filaments from cardiac Myosin binding protein-C knockout mice. Biophys J (2007) 1.05
Species-specific differences in the Pro-Ala rich region of cardiac myosin binding protein-C. J Muscle Res Cell Motil (2010) 1.04
Mechanical unfolding of cardiac myosin binding protein-C by atomic force microscopy. Biophys J (2011) 1.03
Dedifferentiation of atrial cardiomyocytes as a result of chronic atrial fibrillation. Am J Pathol (1997) 1.01
Myofibrillar remodeling in cardiac hypertrophy, heart failure and cardiomyopathies. Can J Cardiol (2006) 1.00
Cardiac myosin binding protein C phosphorylation in cardiac disease. J Muscle Res Cell Motil (2011) 0.98
The extent of cardiac myosin binding protein-C phosphorylation modulates actomyosin function in a graded manner. J Muscle Res Cell Motil (2012) 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
Functional differences between the N-terminal domains of mouse and human myosin binding protein-C. J Biomed Biotechnol (2010) 0.96
Effects of contractile protein phosphorylation on force development in permeabilized rat cardiac myocytes. Basic Res Cardiol (2007) 0.95
Post-translational control of cardiac hemodynamics through myosin binding protein C. Pflugers Arch (2013) 0.95
Myosin binding protein-C: a regulator of actomyosin interaction in striated muscle. J Biomed Biotechnol (2011) 0.95
Cardiac myosin binding protein-C as a central target of cardiac sarcomere signaling: a special mini review series. Pflugers Arch (2013) 0.93
Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C. BMC Cell Biol (2011) 0.93
Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol (2014) 0.92
A gain-of-function mutation in the M-domain of cardiac myosin-binding protein-C increases binding to actin. J Biol Chem (2013) 0.91
Functional dissection of myosin binding protein C phosphorylation. J Mol Cell Cardiol (2013) 0.91
Myosin binding protein-C slow is a novel substrate for protein kinase A (PKA) and C (PKC) in skeletal muscle. J Proteome Res (2011) 0.91
A human polymorphism of protein phosphatase-1 inhibitor-1 is associated with attenuated contractile response of cardiomyocytes to beta-adrenergic stimulation. FASEB J (2008) 0.90
Cardiac Myosin-binding protein C modulates the tuning of the molecular motor in the heart. Biophys J (2008) 0.90
Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells. Proc Natl Acad Sci U S A (2014) 0.89
Multiple forms of cardiac myosin-binding protein C exist and can regulate thick filament stability. J Gen Physiol (2007) 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
Phosphorylation modulates the mechanical stability of the cardiac myosin-binding protein C motif. Biophys J (2013) 0.88
Back to the future: new techniques show that forgotten phosphorylation sites are present in contractile proteins of the heart whilst intensively studied sites appear to be absent. J Muscle Res Cell Motil (2009) 0.88
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. Hum Mol Genet (2013) 0.88
PKCα-specific phosphorylation of the troponin complex in human myocardium: a functional and proteomics analysis. PLoS One (2013) 0.87
Translation elongation factor eEF1A binds to a novel myosin binding protein-C-like protein. J Cell Biochem (2008) 0.87
Phosphorylation of cMyBP-C affects contractile mechanisms in a site-specific manner. Biophys J (2014) 0.87
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol (2008) 0.87
Kinetics and energetics of the crossbridge cycle. Heart Fail Rev (2005) 0.87
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy. J Med Genet (1998) 0.86
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
Sarcomeric protein isoform transitions in cardiac muscle: a journey to heart failure. Biochim Biophys Acta (2014) 0.84
Cardiac myosin-binding protein-C is a critical mediator of diastolic function. Pflugers Arch (2014) 0.84
Cardiac myosin binding protein-C plays no regulatory role in skeletal muscle structure and function. PLoS One (2013) 0.84
Phosphorylation and calcium antagonistically tune myosin-binding protein C's structure and function. Proc Natl Acad Sci U S A (2016) 0.84
The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin. J Biol Chem (2012) 0.83
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
Surviving the infarct: A profile of cardiac myosin binding protein-C pathogenicity, diagnostic utility, and proteomics in the ischemic myocardium. Proteomics Clin Appl (2014) 0.82
Site-directed spectroscopy of cardiac myosin-binding protein C reveals effects of phosphorylation on protein structural dynamics. Proc Natl Acad Sci U S A (2016) 0.82
Enhanced cardiac function in Gravin mutant mice involves alterations in the β-adrenergic receptor signaling cascade. PLoS One (2013) 0.81
Top-down mass spectrometry of cardiac myofilament proteins in health and disease. Proteomics Clin Appl (2014) 0.81
Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships. Pflugers Arch (2013) 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
Molecule specific effects of PKA-mediated phosphorylation on rat isolated heart and cardiac myofibrillar function. Arch Biochem Biophys (2016) 0.80
MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. Pflugers Arch (2013) 0.80
Myosin binding protein C: implications for signal-transduction. J Muscle Res Cell Motil (2011) 0.79
Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature (1970) 1528.65
DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54
CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res (1994) 392.47
Improved M13 phage cloning vectors and host strains: nucleotide sequences of the M13mp18 and pUC19 vectors. Gene (1985) 213.67
A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res (1984) 181.98
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science (1985) 95.08
Use of T7 RNA polymerase to direct expression of cloned genes. Methods Enzymol (1990) 61.47
Phosphopeptide mapping and phosphoamino acid analysis by two-dimensional separation on thin-layer cellulose plates. Methods Enzymol (1991) 15.04
The immunoglobulin superfamily--domains for cell surface recognition. Annu Rev Immunol (1988) 12.87
Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations. Methods Enzymol (1991) 6.72
A new protein of the thick filaments of vertebrate skeletal myofibrils. Extractions, purification and characterization. J Mol Biol (1973) 4.79
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell (1994) 4.47
Rapid purification of homodimer and heterodimer HIV-1 reverse transcriptase by metal chelate affinity chromatography. Eur J Biochem (1990) 4.40
The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol (1988) 3.86
Many of the immunoglobulin superfamily domains in cell adhesion molecules and surface receptors belong to a new structural set which is close to that containing variable domains. J Mol Biol (1994) 3.57
Sequence of an unusually large protein implicated in regulation of myosin activity in C. elegans. Nature (1989) 3.49
High-resolution crystal structures of tyrosine kinase SH3 domains complexed with proline-rich peptides. Nat Struct Biol (1994) 2.95
Towards a molecular understanding of titin. EMBO J (1992) 2.78
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med (1989) 2.70
Gene isolation by screening lambda gt11 libraries with antibodies. Methods Enzymol (1987) 2.20
Interaction of C-protein with myosin, myosin rod and light meromyosin. J Mol Biol (1975) 2.15
The binding of skeletal muscle C-protein to F-actin, and its relation to the interaction of actin with myosin subfragment-1. J Mol Biol (1978) 2.09
The interaction of C-protein with heavy meromyosin and subfragment-2. Biochem J (1978) 1.99
The major myosin-binding domain of skeletal muscle MyBP-C (C protein) resides in the COOH-terminal, immunoglobulin C2 motif. J Cell Biol (1993) 1.97
Direct amplification of cDNA inserts from lambda libraries using the cloning-adapter as primer for PCR. Nucleic Acids Res (1989) 1.89
Constitutive mutant and putative regulatory serine phosphorylation site of mammalian MAP kinase kinase (MEK1). EMBO J (1994) 1.86
Alterations in Ca2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers. J Gen Physiol (1991) 1.78
Phosphorylation of C-protein, troponin I and phospholamban in isolated rabbit hearts. Biochem J (1988) 1.73
Isolation and characterization of a cDNA clone encoding avian skeletal muscle C-protein: an intracellular member of the immunoglobulin superfamily. Proc Natl Acad Sci U S A (1990) 1.71
X-ray structure determination of telokin, the C-terminal domain of myosin light chain kinase, at 2.8 A resolution. J Mol Biol (1992) 1.69
The ultrastructural location of C-protein, X-protein and H-protein in rabbit muscle. J Muscle Res Cell Motil (1986) 1.67
Phosphorylation of purified cardiac muscle C-protein by purified cAMP-dependent and endogenous Ca2+-calmodulin-dependent protein kinases. J Biol Chem (1984) 1.67
Differential distribution of subsets of myofibrillar proteins in cardiac nonstriated and striated myofibrils. J Cell Biol (1990) 1.65
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet (1993) 1.58
Phosphorylation of a myofibrillar protein of Mr 150 000 in perfused rat heart, and the tentative indentification of this as C-protein. FEBS Lett (1980) 1.44
A survey of interactions made by the giant protein titin. J Cell Sci (1993) 1.38
Phosphorylation of chicken cardiac C-protein by calcium/calmodulin-dependent protein kinase II. J Biol Chem (1991) 1.37
Immunoglobulin-type domains of titin: same fold, different stability? Biochemistry (1994) 1.33
Localization of C-protein isoforms in chicken skeletal muscle: ultrastructural detection using monoclonal antibodies. J Cell Biol (1984) 1.31
The C-proteins of rabbit red, white, and cardiac muscles. J Biol Chem (1983) 1.22
Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. Eur J Biochem (1993) 1.20
Immunoglobulin-type domains of titin are stabilized by amino-terminal extension. FEBS Lett (1994) 1.19
Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA. J Cell Sci (1992) 1.15
Effects of cholinergic and adrenergic agonists on phosphorylation of a 165,000-dalton myofibrillar protein in intact cardiac muscle. J Biol Chem (1982) 1.14
The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. J Cell Sci (1993) 1.12
Structural diversity in domains of the immunoglobulin superfamily. Cold Spring Harb Symp Quant Biol (1989) 1.09
Preparation of C-protein, H-protein, X-protein, and phosphofructokinase. Methods Enzymol (1982) 1.05
Effect of C-protein on actomyosin ATPase. Biochim Biophys Acta (1980) 1.04
Counterstain-enhanced chromosome banding. Hum Genet (1981) 1.03
Immunochemical analysis of C-protein isoform transitions during the development of chicken skeletal muscle. Dev Biol (1984) 1.02
Molecular cloning of chicken myosin-binding protein (MyBP) H (86-kDa protein) reveals extensive homology with MyBP-C (C-protein) with conserved immunoglobulin C2 and fibronectin type III motifs. J Biol Chem (1993) 1.01
cDNA cloning and sequence comparisons of human and chicken muscle C-protein and 86kD protein. Symp Soc Exp Biol (1992) 0.85
Synthetic peptides based on the calmodulin-binding domain of myosin light chain kinase inhibit activation of other calmodulin-dependent enzymes. Biochem Biophys Res Commun (1988) 0.84
Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1. Hum Genet (1993) 0.80
Cloning of the T gene required in mesoderm formation in the mouse. Nature (1990) 4.20
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
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
Field gradients improve resolution on DNA sequencing gels. J Biochem Biophys Methods (1984) 3.37
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet (2001) 3.09
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet (1976) 3.08
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet (2005) 2.54
Changes in titin and collagen underlie diastolic stiffness diversity of cardiac muscle. J Mol Cell Cardiol (2000) 2.54
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
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
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol (2012) 2.38
Differential expression of cardiac titin isoforms and modulation of cellular stiffness. Circ Res (2000) 2.28
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet (1996) 2.13
Towards a molecular understanding of the elasticity of titin. J Mol Biol (1996) 2.12
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
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
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol (2001) 1.97
Titin extensibility in situ: entropic elasticity of permanently folded and permanently unfolded molecular segments. J Cell Biol (1998) 1.93
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet (1993) 1.92
I-band titin in cardiac muscle is a three-element molecular spring and is critical for maintaining thin filament structure. J Cell Biol (1999) 1.88
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
Fluorescence quenching: A tool for single-molecule protein-folding study. Proc Natl Acad Sci U S A (2000) 1.79
The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol (1998) 1.78
Mechanically driven contour-length adjustment in rat cardiac titin's unique N2B sequence: titin is an adjustable spring. Circ Res (1999) 1.75
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs. J Mol Biol (1997) 1.70
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Trisomy 16q21 = to qter. Hum Genet (1980) 1.59
Titin-actin interaction in mouse myocardium: passive tension modulation and its regulation by calcium/S100A1. Biophys J (2001) 1.59
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute. J Cell Physiol (2007) 1.57
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet (1996) 1.53
The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments. J Biol Chem (2001) 1.51
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Hum Genet (1992) 1.50
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet (2001) 1.46
Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. J Mol Biol (1998) 1.44
Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J Mol Biol (2001) 1.43
Identification and localization of high molecular weight proteins in insect flight and leg muscle. EMBO J (1990) 1.42
Molecular dissection of N2B cardiac titin's extensibility. Biophys J (1999) 1.39
Transmission of a fully functional human neocentromere through three generations. Am J Hum Genet (1999) 1.38
Actin-titin interaction in cardiac myofibrils: probing a physiological role. Biophys J (1997) 1.36
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
Extensibility of isoforms of cardiac titin: variation in contour length of molecular subsegments provides a basis for cellular passive stiffness diversity. Biophys J (2000) 1.35
Structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1--a possible role in the Frank-Starling mechanism of the heart. J Mol Biol (2001) 1.33
Immunoglobulin-type domains of titin: same fold, different stability? Biochemistry (1994) 1.33
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation (2000) 1.32
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
A new chromosome instability disorder. Clin Genet (1986) 1.23
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet (1988) 1.22
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet (2008) 1.20
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum Genet (1988) 1.18
Kettin, a large modular protein in the Z-disc of insect muscles. EMBO J (1993) 1.17
Purification of native p94, a muscle-specific calpain, and characterization of its autolysis. Biochem J (1998) 1.16
A survey of the primary structure and the interspecies conservation of I-band titin's elastic elements in vertebrates. J Struct Biol (1998) 1.16
Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms. J Mol Biol (1996) 1.16
Coding sequence and expression of the homeobox gene Hox 1.3. Development (1988) 1.15
Mapping of a human centromere onto the DNA by topoisomerase II cleavage. EMBO Rep (2000) 1.15
DNA sequencing using alpha-thiodeoxynucleotides. Methods Enzymol (1987) 1.14
A new method of DNA sequencing using deoxynucleoside alpha-thiotriphosphates. DNA (1986) 1.13
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics (1991) 1.12
A simple and rapid method for the detection of RNA in formalin-fixed, paraffin-embedded tissues by PCR amplification. Biochem Biophys Res Commun (1991) 1.12
A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics (2000) 1.12
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics (1998) 1.11
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet (2011) 1.10
Order of six loci at 2q24-q31 and orientation of the HOXD locus. Genomics (1994) 1.10
Cardiac titin isoforms are coexpressed in the half-sarcomere and extend independently. Am J Physiol Heart Circ Physiol (2001) 1.10
Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet (2010) 1.09
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
Initiation and maturation of I-Z-I bodies in the growth tips of transfected myotubes. J Cell Sci (1999) 1.08
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet (1997) 1.07
Correlation between conformational and binding properties of nebulin repeats. J Mol Biol (1996) 1.07
Drosophila projectin: relatedness to titin and twitchin and correlation with lethal(4) 102 CDa and bent-dominant mutants. Proc Biol Sci (1992) 1.04
The cDNA sequence and chromosomal location of the human SOX2 gene. Mamm Genome (1994) 1.03
Phosphorylation of KSP motifs in the C-terminal region of titin in differentiating myoblasts. EMBO J (1993) 1.03
Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet (1993) 1.02
Dup(3)(p2----pter) in two families, including one infant with cyclopia. Am J Med Genet (1985) 1.01
Evidence for an ancestral alphoid domain on the long arm of human chromosome 2. Hum Genet (1992) 1.01
The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction. Clin Genet (1977) 1.00
Antisense oligonucleotide experiments elucidate the essential role of titin in sarcomerogenesis in adult rat cardiomyocytes in long-term culture. J Cell Sci (2000) 1.00
Ring chromosome and latent centromeres. Cytogenet Cell Genet (1980) 0.99
Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics (1996) 0.98
Association of kettin with actin in the Z-disc of insect flight muscle. J Mol Biol (1999) 0.98
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod (2004) 0.98
Cd bands and centromeric function in dicentric chromosomes. Hum Genet (1980) 0.98
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics (2008) 0.98
Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels. Chromosome Res (1995) 0.98
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. Eur J Med Genet (2007) 0.97
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. J Med Genet (1998) 0.97