Published in Hum Mutat on June 01, 2001
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res (2011) 1.58
Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol (2002) 1.47
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med (2016) 1.35
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol (2008) 1.30
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. J Biol Chem (2009) 1.16
Structural and functional consequences of the cardiac troponin C L48Q Ca(2+)-sensitizing mutation. Biochemistry (2012) 1.11
Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes? J Biol Chem (2008) 1.06
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med (2001) 1.00
Noncanonical EF-hand motif strategically delays Ca2+ buffering to enhance cardiac performance. Nat Med (2013) 0.96
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. Curr Mol Med (2012) 0.94
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. J Biol Chem (2012) 0.91
Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs. Gene (2015) 0.88
The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium. Basic Res Cardiol (2009) 0.87
Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*. PLoS One (2013) 0.86
Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach. J Biol Chem (2010) 0.86
Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics. Biochem Res Int (2012) 0.85
Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. Arch Biochem Biophys (2016) 0.82
Pathogenic peptide deviations support a model of adaptive evolution of chordate cardiac performance by troponin mutations. Physiol Genomics (2010) 0.82
Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused review. Front Physiol (2014) 0.82
Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility. Arch Biochem Biophys (2016) 0.82
Changing a limb muscle growth program into a resorption program. Dev Biol (2006) 0.81
In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. Circ Cardiovasc Genet (2015) 0.81
Distinct troponin C isoform requirements in cardiac and skeletal muscle. Dev Dyn (2010) 0.81
Crystal structure of cardiac troponin C regulatory domain in complex with cadmium and deoxycholic acid reveals novel conformation. J Mol Biol (2011) 0.79
The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q. J Mol Cell Cardiol (2015) 0.78
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype. Front Physiol (2016) 0.76
Chamber Specific Gene Expression Landscape of the Zebrafish Heart. PLoS One (2016) 0.76
Thick and thin filament gene mutations in striated muscle diseases. Int J Mol Sci (2008) 0.76
Fluorescent Protein-Based Ca2+ Sensor Reveals Global, Divalent Cation-Dependent Conformational Changes in Cardiac Troponin C. PLoS One (2016) 0.76
Cardiomyopathy classification: ongoing debate in the genomics era. Biochem Res Int (2012) 0.75
Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development. Front Physiol (2016) 0.75
Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model. Biophys J (2017) 0.75
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. Front Physiol (2017) 0.75
Changes in the Dynamics of the Cardiac Troponin C Molecule Explain the Effects of Ca(2+)-Sensitizing Mutations. J Biol Chem (2017) 0.75
Short telomeres in patients with vascular dementia: an indicator of low antioxidative capacity and a possible risk factor? Lab Invest (2000) 2.42
Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature. Genet Couns (1997) 1.98
LI-cadherin: a marker of gastric metaplasia and neoplasia. Gut (2001) 1.72
The application of methods of non-linear dynamics for the improved and predictive recognition of patients threatened by sudden cardiac death. Cardiovasc Res (1996) 1.65
A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy. Eur Heart J (2001) 1.53
SCAP ligands are potent new lipid-lowering drugs. Nat Med (2001) 1.50
Kid-1, a putative renal transcription factor: regulation during ontogeny and in response to ischemia and toxic injury. Mol Cell Biol (1993) 1.44
[Cardiac manifestations of muscular dystrophies]. Z Kardiol (2005) 1.42
Blind ratings of early symptoms of autism based upon family home movies. J Am Acad Child Adolesc Psychiatry (1993) 1.40
Autism and genetics: clinical approach and association study with two markers of HRAS gene. Am J Med Genet (1995) 1.40
Baroreceptor-mediated release of vasopressin in patients with chronic congestive heart failure and defective sympathetic responsiveness. Am J Cardiol (1992) 1.39
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. Biophys J (2009) 1.28
Liver-intestine cadherin: molecular cloning and characterization of a novel Ca(2+)-dependent cell adhesion molecule expressed in liver and intestine. J Cell Biol (1994) 1.28
The graft-versus-leukemia effect is mainly restricted to NIH-defined chronic graft-versus-host disease after reduced intensity conditioning before allogeneic stem cell transplantation. Leukemia (2010) 1.26
Autism and family home movies: preliminary findings. J Autism Dev Disord (1991) 1.16
Catecholaminergic metabolism and autism. Dev Med Child Neurol (1994) 1.11
Acquired growth hormone resistance in patients with chronic heart failure: implications for therapy with growth hormone. J Am Coll Cardiol (2001) 1.09
Early symptoms in autism from family home movies. Evaluation and comparison between 1st and 2nd year of life using I.B.S.E. scale. Acta Paedopsychiatr (1992) 1.02
LI-cadherin-mediated cell-cell adhesion does not require cytoplasmic interactions. J Cell Biol (1997) 0.99
Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. Structure (1998) 0.98
The heart in Anderson Fabry disease. Z Kardiol (2002) 0.95
Association study with two markers of a human homeogene in infantile autism. J Med Genet (1995) 0.95
Expression of calcium channel subunits in the normal and diseased human myocardium. J Mol Med (Berl) (1996) 0.94
Angiotensin-converting enzyme and heart chymase gene polymorphisms in hypertrophic cardiomyopathy. Am J Cardiol (1996) 0.94
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. J Med Genet (2004) 0.92
Functional reconstitution of the human placental transferrin receptor into phospholipid bilayers leads to long tubular structures proceeding from the vesicle surface. Biochemistry (1995) 0.90
Ksp-cadherin is a functional cell-cell adhesion molecule related to LI-cadherin. Exp Cell Res (2004) 0.89
Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am J Hum Genet (1999) 0.89
DNA hairpin structures in solution: 500-MHz two-dimensional 1H NMR studies on d(CGCCGCAGC) and d(CGCCGTAGC). Biochemistry (1987) 0.88
Measurement of left ventricular dimensions and function in patients with dilated cardiomyopathy. J Magn Reson Imaging (2001) 0.87
Validity and reliability of the infant behavioral summarized evaluation (IBSE): a rating scale for the assessment of young children with autism and developmental disorders. J Autism Dev Disord (1992) 0.87
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med (Berl) (2001) 0.86
LI-cadherin gene expression during mouse intestinal development. Dev Dyn (2001) 0.85
X chromosome and infantile autism. Biol Psychiatry (1996) 0.84
Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism. Psychiatry Res (1993) 0.84
Experiences with external quality assessment (EQA) in molecular diagnostics in clinical laboratories in Germany. Working Group of the German Societies for Clinical Chemistry (DGKC) and Laboratory Medicine (DGLM). Clin Chem Lab Med (2000) 0.83
Human transferrin receptor is active and plasma membrane-targeted in yeast. FEMS Microbiol Lett (1998) 0.82
Unique gene structure and paralogy define the 7D-cadherin family. Cell Mol Life Sci (2006) 0.82
Phylogenetic origin of LI-cadherin revealed by protein and gene structure analysis. Cell Mol Life Sci (2004) 0.82
Direct calibration ELISA: a rapid method for the simplified determination of association constants of unlabeled biological molecules. J Immunol Methods (1995) 0.81
The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein. J Cell Biochem (2000) 0.81
Differential modulation of human immunoglobulin isotype production by the neuropeptides substance P, NKA and NKB. J Neuroimmunol (1999) 0.80
The result of equilibrium-constant calculations strongly depends on the evaluation method used and on the type of experimental errors. Biochem J (2001) 0.80
[The value of retrograde urethrography in the diagnosis of sub-urethral diverticula in women]. Ann Urol (Paris) (1992) 0.80
Growth hormone treatment in dilated cardiomyopathy. J Card Surg (2001) 0.80
Effect of chronic volume overload on baroreflex control of heart rate and sympathetic nerve activity. Am J Physiol (1997) 0.79
Vasodilators in the treatment of hypertension. Compr Ther (1982) 0.79
[ROC (receiver operating characteristics) curve: principles and application in biology]. Ann Biol Clin (Paris) (2005) 0.79
Lack of association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Ann Neurol (1997) 0.79
DNA structure in which an adenine-cytosine mismatch pair forms an integral part of the double helix. Biochemistry (1987) 0.78
Genetic markers in autism: association study on short arm of chromosome 11. J Autism Dev Disord (1994) 0.78
[Dementia in the very elderly. Results of the Berlin Aging Study]. Nervenarzt (1997) 0.78
Serotonin and autism: biochemical and molecular biology features. Psychiatry Res (1996) 0.78
The frequency of occurrence of anti-cardiac receptor autoantibodies and their correlation with clinical manifestation in patients with hypertrophic cardiomyopathy. Autoimmunity (1999) 0.78
Ramipril and captopril in patients with heart failure: effects on hemodynamics and vasoconstrictor systems. Am J Cardiol (1987) 0.78
Blood pressure elevation during hindquarter compression in dogs is neurogenic. J Hypertens (1984) 0.78
Modulation of coronary circulation and the cardiac matrix by the renin-angiotensin system. Eur Heart J (1991) 0.77
Angiotensin-converting enzyme inhibition, autonomic activity, and hemodynamics in patients with heart failure who perform isometric exercise. Am Heart J (1996) 0.77
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. Hum Mutat (1998) 0.77
Ventricular remodeling after acute myocardial infarction. Thromb Haemost (1999) 0.77
Chymase gene locus is not associated with myocardial infarction and is not linked to heart size or blood pressure. Am J Cardiol (1998) 0.77
[Rett syndrome and autism. Early comparative evaluation for signs of autism using family movies]. Encephale (1997) 0.76
[Dual sequence method for analysis of spontaneous baroreceptor reflex sensitivity in patients with dilated cardiomyopathy]. Z Kardiol (1999) 0.76
Angiotensin II and coronary artery disease, congestive heart failure, and sudden cardiac death. Basic Res Cardiol (1998) 0.76
Living donor kidney transplantation from the elderly donor. Transplant Proc (2006) 0.76
Structural and functional stability of the mature transferrin receptor from human placenta. Arch Biochem Biophys (2001) 0.76
Insulin-like growth factor-I and risk of breast cancer. Lancet (1998) 0.76
[Bourneville's tuberous sclerosis and autism]. Arch Pediatr (1997) 0.75
Growth hormone therapy in dilated cardiomyopathy monitored with MRI. MAGMA (1998) 0.75
Role of cardiovascular receptors on the neural regulation of renin release in normal men. Hypertension (1983) 0.75
We need a detailed phenome in the phenomenon of genetics and congenital heart disease. J Med Genet (2008) 0.75
Sympathetic activation and loss of reflex sympathetic control in mild congestive heart failure. Circulation (1996) 0.75
Increased mortality associated with growth hormone treatment in critically ill adults. N Engl J Med (2000) 0.75
Cardiac hypertrophy in Friedreich's ataxia. Cardiovasc Res (2002) 0.75
Carvedilol in heart failure: the MOCHA trial. Circulation (1997) 0.75
Improvement of cardiac function by angiotensin converting enzyme inhibition. Sites of action. Circulation (1993) 0.75
[Clinical findings with inhibitors of the renin-angiotensin system]. Arzneimittelforschung (1993) 0.75
Congestive heart failure: how to evaluate efficacy of treatment. Eur Heart J (1988) 0.75
The background of the MERIT-HF trial. Basic Res Cardiol (2000) 0.75
[Role of the sympathetic nervous system in heart failure]. Z Kardiol (1991) 0.75
Angiotensin-converting enzyme inhibitors and renal function in heart failure. Am J Cardiol (1992) 0.75
[Effects of angiotensin-converting enzyme inhibitors in heart failure]. Z Kardiol (1988) 0.75
[Criteria of the eligibility of patients for treatment with intravenous normal human immunoglobulin]. Rev Med Interne (2007) 0.75
[Sexual risk factors and HIV seroprevalence among the deaf and hearing-impaired in Yaoundé]. Sante (2010) 0.75
[Changes in kidney function during treatment of heart failure patients with ACE inhibitors]. Verh Dtsch Ges Inn Med (1991) 0.75
[Infectious endocarditis]. MMW Fortschr Med (2003) 0.75
Biatrial cardiac myxoma. J Cardiovasc Magn Reson (2000) 0.75
Fluconazole in patients at risk from invasive aspergillosis. J Med Vet Mycol (1993) 0.75
[Reparative effects of ACE inhibitors on the heart]. Klin Wochenschr (1992) 0.75
[Afterload and blood pressure amplitude in dilated cardiomyopathy]. Biomed Tech (Berl) (2002) 0.75
Humoral adaptation mechanisms and clinical outcome during vasodilator therapy. Eur Heart J (1988) 0.75
[Analysis of brief blood pressure and heart rate variability]. Biomed Tech (Berl) (1998) 0.75
[Multiple myeloma and intravenous immunoglobulins]. Rev Med Interne (2007) 0.75
[Dual sequence method for analysis of spontaneous baroreceptor sensitivity]. Biomed Tech (Berl) (1998) 0.75
[Studies of the action of a new anti-aphthous vaccine in swine]. Bull Off Int Epizoot (1971) 0.75