Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes—a systematic review

Response by Rowin et al to Letter Regarding Article, “Clinical Profile and Consequences of Atrial Fibrillation in Hypertrophic Cardiomyopathy”

(2018) Ethan J. Rowin et al.   CIRCULATION

Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells

(2018) Ning Ma et al.   CIRCULATION

Atrial fibrillation in patients with inherited cardiomyopathies

(2018) Cynthia Yeung et al.   EUROPACE

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy

(2018) Diogo Mosqueira et al.   EUROPEAN HEART JOURNAL

CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities

(2018) Ronen Ben Jehuda et al.   HEART RHYTHM

Dilated cardiomyopathy myosin mutants have reduced force-generating capacity

(2018) Zoltan Ujfalusi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes

(2018) Paola Spitalieri et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes

(2018) Lili Wang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

(2018) Amanda C. Garfinkel et al.   Heart Failure Clinics

Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation

(2018) Shishi Li et al.   Stem Cell Reports

Low Resting Membrane Potential and Low Inward Rectifier Potassium Currents Are Not Inherent Features of hiPSC-Derived Cardiomyocytes

(2018) András Horváth et al.   Stem Cell Reports

Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing

(2018) Chengzu Long et al.   Science Advances

Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy

(2018) Timothy Shin Heng Mak et al.   Scientific Reports

Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease

(2017) Shih-Jie Chou et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes

(2017) Katrin Streckfuss-Bömeke et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Impaired mitophagy facilitates mitochondrial damage in Danon disease

(2017) Sherin I. Hashem et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy

(2017) M.L. Lynn et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy

(2017) Nikita Ikon et al.   LIPIDS

Common genetic variation drives molecular heterogeneity in human iPSCs

(2017) Helena Kilpinen et al.   NATURE

Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain ( MYH7 ) gene

(2017) Samantha Barratt Ross et al.   Stem Cell Research

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

(2017) Allison L. Cirino et al.   Circulation-Cardiovascular Genetics

Evaluation of MYBPC3 trans -Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes

(2017) Maksymilian Prondzynski et al.   Molecular Therapy-Nucleic Acids

Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy

(2017) Masataka Kawana et al.   Science Advances

IK1-enhanced human-induced pluripotent stem cell-derived cardiomyocytes: an improved cardiomyocyte model to investigate inherited arrhythmia syndromes

(2016) Ravi Vaidyanathan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

A myosin activator improves actin assembly and sarcomere function of human-induced pluripotent stem cell-derived cardiomyocytes with a troponin T point mutation

(2016) K. M. Broughton et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy

(2016) Jennifer Davis et al.   CELL

Hypertrophic Cardiomyopathy

(2016) Theresia Kraft et al.   CIRCULATION RESEARCH

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy

(2016) Dean G. Phelan et al.   EUROPEAN HEART JOURNAL

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA

(2016) Yee-Ki Lee et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

(2016) James W. McNamara et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

(2016) E. M. Green et al.   SCIENCE

Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Orα-Tropomyosin Mutation for Hypertrophic Cardiomyopathy

(2016) Marisa Ojala et al.   Stem Cells International

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

(2016) Rebecca Josowitz et al.   Stem Cell Reports

Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

(2016) Josè Manuel Pioner et al.   Stem Cell Reports

Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy

(2016) Timothy J. Cashman et al.   PLoS One

Three-dimensional direct measurement of cardiomyocyte volume, nuclearity, and ploidy in thick histological sections

(2016) Jonathan Guy Bensley et al.   Scientific Reports

Animal and in silico models for the study of sarcomeric cardiomyopathies

(2015) D. J. Duncker et al.   CARDIOVASCULAR RESEARCH

Research priorities in sarcomeric cardiomyopathies

(2015) J. van der Velden et al.   CARDIOVASCULAR RESEARCH

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes

(2015) Thomas Eschenhagen et al.   CARDIOVASCULAR RESEARCH

Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy

(2015) Haodi Wu et al.   Cell Stem Cell

Modeling and study of the mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from individuals with Duchenne muscular dystrophy

(2015) B. Lin et al.   Disease Models & Mechanisms

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy

(2015) M. Gramlich et al.   EMBO Molecular Medicine

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

Modeling structural and functional deficiencies ofRBM20familial dilated cardiomyopathy using human induced pluripotent stem cells

(2015) Saranya P. Wyles et al.   HUMAN MOLECULAR GENETICS

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

(2015) J. T. Hinson et al.   SCIENCE

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

(2015) Ioannis Karakikes et al.   Nature Communications

Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function

(2015) Matthew J. Birket et al.   Cell Reports

Ensemble Force Changes that Result from Human Cardiac Myosin Mutations and a Small-Molecule Effector

(2015) Tural Aksel et al.   Cell Reports

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

(2015) Yohei Sato et al.   Molecular Therapy-Methods & Clinical Development

Genetics of Hypertrophic and Dilated Cardiomyopathy

(2015) Felix W. Friedrich et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations

(2014) E. Rosalie Witjas-Paalberends et al.   CARDIOVASCULAR RESEARCH

Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells

(2014) Lu Han et al.   CARDIOVASCULAR RESEARCH

Engineering Adolescence

(2014) Xiulan Yang et al.   CIRCULATION RESEARCH

Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

(2014) Kunil K. Raval et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serum supplemented culture medium masks hypertrophic phenotypes in human pluripotent stem cell derived cardiomyocytes

(2014) Cheryl Dambrot et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

(2014) Gang Wang et al.   NATURE MEDICINE

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

(2014) Giulia Mearini et al.   Nature Communications

Endothelin‐1 Induces Myofibrillar Disarray and Contractile Vector Variability in Hypertrophic Cardiomyopathy–Induced Pluripotent Stem Cell–Derived Cardiomyocytes

(2014) Atsushi Tanaka et al.   Journal of the American Heart Association

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

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

Genetic and Epigenetic Variations in iPSCs: Potential Causes and Implications for Application

(2013) Gaoyang Liang et al.   Cell Stem Cell

Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells

(2013) Feng Lan et al.   Cell Stem Cell

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome

(2013) Milena Bellin et al.   EMBO JOURNAL

Rescue of cardiomyopathy through U7snRNA-mediated exon skipping inMybpc3-targeted knock-in mice

(2013) Christina Gedicke-Hornung et al.   EMBO Molecular Medicine

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

(2013) Hung-Fat Tse et al.   HUMAN MOLECULAR GENETICS

Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy

(2013) Giulia Mearini et al.   Molecular Therapy-Nucleic Acids

Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice

(2012) Bodvaël Fraysse et al.   JOURNAL OF MOLECULAR AND CELLULAR 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

Modelling the long QT syndrome with induced pluripotent stem cells

(2011) Ilanit Itzhaki et al.   NATURE

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

(2010) Xonia Carvajal-Vergara et al.   NATURE

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

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

Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice

(2009) Nicolas Vignier et al.   CIRCULATION RESEARCH

Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

(2009) Michelle Michels et al.   JACC-Cardiovascular Imaging