Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle

Hypertrophic Cardiomyopathy: A Vicious Cycle Triggered by Sarcomere Mutations and Secondary Disease Hits

(2018) Paul J.M. Wijnker et al.   ANTIOXIDANTS & REDOX SIGNALING

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

(2018) Francesco Mazzarotto et al.   GENETICS IN MEDICINE

Current perspectives on the diagnosis and management of dilated cardiomyopathy Beyond heart failure: a Cardiomyopathy Clinic Doctor’s point of view

(2018) Athanasios Bakalakos et al.   Hellenic Journal of Cardiology

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

(2018) James S. Ware et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Histone deacetylase activity governs diastolic dysfunction through a nongenomic mechanism

(2018) Mark Y. Jeong et al.   Science Translational Medicine

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

(2018) Judith Montag et al.   Frontiers in Physiology

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

(2017) M. Linschoten et al.   JOURNAL OF CARDIAC FAILURE

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

(2017) Judith Montag et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Genotype-specific pathogenic effects in human dilated cardiomyopathy

(2017) Ilse A. E. Bollen et al.   JOURNAL OF PHYSIOLOGY-LONDON

Proteasome dysfunction in cardiomyopathies

(2017) Jennifer E. Gilda et al.   JOURNAL OF PHYSIOLOGY-LONDON

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

(2017) Upasana Tayal et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

(2017) Irene Mademont-Soler et al.   PLoS One

Ca 2+ -induced movement of tropomyosin on native cardiac thin filaments revealed by cryoelectron microscopy

(2017) Cristina Risi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

(2017) Petr G. Vikhorev et al.   Scientific Reports

Lamin A/C -Related Cardiac DiseaseCLINICAL PERSPECTIVE

(2017) Edgar T. Hoorntje et al.   Circulation-Cardiovascular Genetics

Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus)

(2017) Andrew E. Messer et al.   Frontiers in Physiology

Cardiomyocyte Hypocontractility and Reduced Myofibril Density in End-Stage Pediatric Cardiomyopathy

(2017) Ilse A. E. Bollen et al.   Frontiers in Physiology

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

(2017) James W. McNamara et al.   PLoS One

Associations between Left Ventricular Cavity Size and Cardiac Function and Overload Determined by Natriuretic Peptide Levels and a Covariance Structure Analysis

(2017) Jun Yoshida et al.   Scientific Reports

Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca2+-sensitivity and suppress the modulation of Ca2+-sensitivity by troponin I phosphorylation

(2016) Andrew E. Messer et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Structural determinants of muscle thin filament cooperativity

(2016) Jeffrey R. Moore et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

(2016) Abdelaziz Beqqali et al.   CARDIOVASCULAR RESEARCH

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

(2016) Biykem Bozkurt et al.   CIRCULATION

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

(2016) Eyal Reinstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Diagnosis and Evaluation of Dilated Cardiomyopathy

(2016) Alan G. Japp et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

(2016) Michael A. Burke et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Titin-truncating variants affect heart function in disease cohorts and the general population

(2016) Sebastian Schafer et al.   NATURE GENETICS

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

(2016) Steven B. Marston   Frontiers in Physiology

Sarcomeric protein isoform transitions in cardiac muscle: A journey to heart failure

(2015) Zhiyong Yin et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Uncoupling of myofilament Ca2+sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate

(2015) Maria Papadaki et al.   CARDIOVASCULAR RESEARCH

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Cardiac Myosin-binding Protein C and Troponin-I Phosphorylation Independently Modulate Myofilament Length-dependent Activation

(2015) Mohit Kumar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Role of Titin Missense Variants in Dilated Cardiomyopathy

(2015) R. L. Begay et al.   Journal of the American Heart Association

The Dilated Cardiomyopathy-Causing Mutation ACTC E361G in Cardiac Muscle Myofibrils Specifically Abolishes Modulation of Ca 2+ Regulation by Phosphorylation of Troponin I

(2014) Petr G. Vikhorev et al.   BIOPHYSICAL JOURNAL

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

(2014) K. Y. van Spaendonck-Zwarts et al.   EUROPEAN HEART JOURNAL

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

(2014) Luis R Lopes et al.   HEART

Muscle dysfunction in hypertrophic cardiomyopathy: What is needed to move to translation?

(2014) Corrado Poggesi et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403QMYH7mutation

(2014) E. Rosalie Witjas-Paalberends et al.   JOURNAL OF PHYSIOLOGY-LONDON

Structure, sarcomeric organization, and thin filament binding of cardiac myosin-binding protein-C

(2014) Roger Craig et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells

(2014) Thomas Kampourakis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Troponin I phosphorylation in human myocardium in health and disease

(2014) P. J. M. Wijnker et al.   Netherlands Heart Journal

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca2+-sensitivity in the pathogenesis of cardiomyopathy

(2014) Andrew E. Messer et al.   Frontiers in Physiology

Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts

(2013) Sebastian Kötter et al.   CARDIOVASCULAR RESEARCH

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

(2013) E. Rosalie Witjas-Paalberends et al.   CARDIOVASCULAR RESEARCH

Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

(2013) Vasco Sequeira et al.   CIRCULATION RESEARCH

Familial hypertrophic cardiomyopathy: Functional effects of myosin mutation R723G in cardiomyocytes

(2013) Theresia Kraft et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Myofibrillar Ca2+ sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T

(2012) Christopher R. Bayliss et al.   CARDIOVASCULAR RESEARCH

Epidemiology and Genetics of Sudden Cardiac Death

(2012) Rajat Deo et al.   CIRCULATION

Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy

(2011) Snigdha Tripathi et al.   BASIC RESEARCH IN CARDIOLOGY

Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

(2011) Sabine J. van Dijk et al.   Circulation-Heart Failure

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTCGene) That Causes Apical Hypertrophy in Man and Mouse

(2011) Weihua Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Passive Stiffness of Myocardium From Congenital Heart Disease and Implications for Diastole

(2010) Rajiv R. Chaturvedi et al.   CIRCULATION

Ubiquitin Proteasome Dysfunction in Human Hypertrophic and Dilated Cardiomyopathies

(2010) Jaime M. Predmore et al.   CIRCULATION

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

Rate-dependent action potential alternans in human heart failure implicates abnormal intracellular calcium handling

(2010) Jason D. Bayer et al.   HEART RHYTHM

Effect of troponin I Ser23/24 phosphorylation on Ca2+-sensitivity in human myocardium depends on the phosphorylation background

(2010) Viola Kooij et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Static and dynamic properties of the HCM myocardium

(2010) Shannamar Dewey et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle

(2010) O'Neal Copeland et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy

(2010) Anita C. Hoskins et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A piece of the human heart: variance of protein phosphorylation in left ventricular samples from end-stage primary cardiomyopathy patients

(2010) Sabine J. van Dijk et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

(2009) Sabine J. van Dijk et al.   CIRCULATION

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

(2009) Steven Marston et al.   CIRCULATION RESEARCH

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

(2009) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

Functional Analysis of a Unique Troponin C Mutation, GLY159ASP, that Causes Familial Dilated Cardiomyopathy, Studied in Explanted Heart Muscle

(2009) Emma C. Dyer et al.   Circulation-Heart Failure

The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales

(2009) M. Papadakis et al.   EUROPACE

Insights into the kinetics of Ca2+-regulated contraction and relaxation from myofibril studies

(2009) Robert Stehle et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The use of phosphate-affinity SDS-PAGE to measure the cardiac troponin I phosphorylation site distribution in human heart muscle

(2009) Andrew E. Messer et al.   Proteomics Clinical Applications

The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy

(2008) Adam M. Jacques et al.   CARDIOVASCULAR RESEARCH

The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils

(2008) Alexandra Belus et al.   JOURNAL OF PHYSIOLOGY-LONDON