Precision medicine for long QT syndrome: patient-specific iPSCs take the lead

Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family

(2022) Koichi Kato et al.   Circulation-Arrhythmia and Electrophysiology

Cardiac sympathetic denervation in the prevention of genetically mediated life-threatening ventricular arrhythmias

(2022) Peter J. Schwartz et al.   EUROPEAN HEART JOURNAL

Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome

(2021) Steven M. Dotzler et al.   CIRCULATION

Artificial intelligence-enhanced electrocardiography in cardiovascular disease management

(2021) Konstantinos C. Siontis et al.   Nature Reviews Cardiology

Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram

(2021) J. Martijn Bos et al.   JAMA Cardiology

Deep learning analysis of electrocardiogram for risk prediction of drug-induced arrhythmias and diagnosis of long QT syndrome

(2021) Edi Prifti et al.   EUROPEAN HEART JOURNAL

An International Multicenter Evaluation of Type 5 Long QT Syndrome

(2020) Jason D. Roberts et al.   CIRCULATION

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

(2020) Arnon Adler et al.   CIRCULATION

Time to Rethink the Genetic Architecture of Long QT Syndrome

(2020) Jodie Ingles et al.   CIRCULATION

Improving long QT syndrome diagnosis by a polynomial-based T-wave morphology characterization

(2020) Ben J.M. Hermans et al.   HEART RHYTHM

Cardiomyocyte maturation: advances in knowledge and implications for regenerative medicine

(2020) Elaheh Karbassi et al.   Nature Reviews Cardiology

The LQT-associated calmodulin mutant E141G induces disturbed Ca2+-dependent binding and a flickering gating mode of the CaV1.2 channel

(2020) Jingyang Su et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes

(2020) Yee-Ki Lee et al.   CARDIOVASCULAR RESEARCH

Inherited cardiac arrhythmias

(2020) Peter J. Schwartz et al.   Nature Reviews Disease Primers

Andersen-Tawil Syndrome

(2020) Andrés Ricardo Pérez-Riera et al.   Cardiology in Review

1970–2020: 50 years of research on the long QT syndrome—from almost zero knowledge to precision medicine

(2020) Peter J Schwartz   EUROPEAN HEART JOURNAL

Left Cardiac Sympathetic Denervation Monotherapy in Patients With Congenital Long QT Syndrome

(2020) Talha Niaz et al.   Circulation-Arrhythmia and Electrophysiology

Deep learning for cardiovascular medicine: a practical primer

(2019) Chayakrit Krittanawong et al.   EUROPEAN HEART JOURNAL

Mexiletine Shortens the QT Interval in Patients With Potassium Channel–Mediated Type 2 Long QT Syndrome

(2019) J. Martijn Bos et al.   Circulation-Arrhythmia and Electrophysiology

Emerging Role of Precision Medicine in Cardiovascular Disease

(2018) Jane A. Leopold et al.   CIRCULATION RESEARCH

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity

(2018) Sam Chai et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant

(2018) Priyanka Garg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cross-Site Reliability of Human Induced Pluripotent stem cell-derived Cardiomyocyte Based Safety Assays Using Microelectrode Arrays: Results from a Blinded CiPA Pilot Study

(2018) Daniel Millard et al.   TOXICOLOGICAL SCIENCES

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

(2018) Hui Huang et al.   Science Advances

High-Content Assay Multiplexing for Muscle Toxicity Screening in Human-Induced Pluripotent Stem Cell-Derived Skeletal Myoblasts

(2018) William D. Klaren et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

A personalized approach to long QT syndrome

(2018) Susan Payne Etheridge et al.   CURRENT OPINION IN CARDIOLOGY

Use of human induced pluripotent stem cell–derived cardiomyocytes to assess drug cardiotoxicity

(2018) Arun Sharma et al.   Nature Protocols

Therapeutic approaches for Long QT syndrome type 3: an update

(2017) Arthur A M Wilde et al.   EUROPACE

Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation

(2017) Yuta Yamamoto et al.   HUMAN MOLECULAR GENETICS

Induced pluripotent stem cell technology: Toward the future of cardiac arrhythmias

(2017) Massimiliano Gnecchi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The KCNH2 -IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2

(2017) Manuela Mura et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Human iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correction

(2016) Daniela Malan et al.   BASIC RESEARCH IN CARDIOLOGY

High throughput physiological screening of iPSC-derived cardiomyocytes for drug development

(2016) Juan C. del Álamo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Integrating cardiomyocytes from human pluripotent stem cells in safety pharmacology: has the time come?

(2016) Luca Sala et al.   BRITISH JOURNAL OF PHARMACOLOGY

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT SyndromeNovelty and Significance

(2016) Worawan B. Limpitikul et al.   CIRCULATION RESEARCH

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

A new hERG allosteric modulator rescues genetic and drug‐induced long‐QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells

(2016) Luca Sala et al.   EMBO Molecular Medicine

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

(2016) Andrew P. Landstrom et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The Use of Ratiometric Fluorescence Measurements of the Voltage Sensitive Dye Di-4-ANEPPS to Examine Action Potential Characteristics and Drug Effects on Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

(2016) M. P. Hortigon-Vinagre et al.   TOXICOLOGICAL SCIENCES

Comprehensive Translational Assessment of Human-Induced Pluripotent Stem Cell Derived Cardiomyocytes for Evaluating Drug-Induced Arrhythmias

(2016) Ksenia Blinova et al.   TOXICOLOGICAL SCIENCES

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

(2015) H. M. Altmann et al.   CIRCULATION

Transformative Impact of Proteomics on Cardiovascular Health and Disease

(2015) Merry L. Lindsey et al.   CIRCULATION

Integrated Metabolomics and Genomics

(2015) Svati H. Shah et al.   Circulation-Cardiovascular Genetics

Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update

(2015) Maartje N. Niemeijer et al.   DRUG SAFETY

The genetics underlying acquired long QT syndrome: impact for genetic screening

(2015) Hideki Itoh et al.   EUROPEAN HEART JOURNAL

The KCNE2 K+ channel regulatory subunit: Ubiquitous influence, complex pathobiology

(2015) Geoffrey W. Abbott   GENE

Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations

(2015) Koji Miyamoto et al.   HEART RHYTHM

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

(2015) Konstantin Wemhöner et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Immaturity of Human Stem-Cell-Derived Cardiomyocytes in Culture: Fatal Flaw or Soluble Problem?

(2015) Christiaan C. Veerman et al.   STEM CELLS AND DEVELOPMENT

Proarrhythmia Risk Assessment in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Using the Maestro MEA Platform

(2015) Yusheng Qu et al.   TOXICOLOGICAL SCIENCES

Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes

(2015) Dongrui Ma et al.   Stem Cell Research & Therapy

Integrated Metabolomics and Genomics

(2015) Svati H. Shah et al.   Circulation-Cardiovascular Genetics

Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes

(2014) Ashish Mehta et al.   CARDIOVASCULAR RESEARCH

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

(2014) Megumi Fukuyama et al.   EUROPACE

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue

(2014) Miao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome

(2013) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity

(2013) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

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

(2013) Milena Bellin et al.   EMBO JOURNAL

Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes

(2013) Elena Matsa et al.   EUROPEAN HEART JOURNAL

The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy

(2013) P. J. Schwartz et al.   EUROPEAN HEART JOURNAL

Compound ICA-105574 prevents arrhythmias induced by cardiac delayed repolarization

(2013) Jing Meng et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R)

(2013) Fan Wang et al.   HEART RHYTHM

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells

(2013) Dongrui Ma et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

(2013) Azra Fatima et al.   PLoS One

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia

(2013) Zahurul A. Bhuiyan et al.   Frontiers in Pediatrics

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events

(2012) Alon Barsheshet et al.   CIRCULATION

Long-QT Syndrome

(2012) Peter J. Schwartz et al.   Circulation-Arrhythmia and Electrophysiology

RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties

(2012) Xiaoli Lu et al.   HEART RHYTHM

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

(2012) Cecile Terrenoire et al.   JOURNAL OF GENERAL PHYSIOLOGY

The Unstoppable Attraction for Induced Pluripotent Stem Cells

(2012) Massimiliano Gnecchi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Not All Beta-Blockers Are Equal in the Management of Long QT Syndrome Types 1 and 2

(2012) Priya Chockalingam et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cozzarelli Prize Winner: Robust cardiomyocyte differentiation from human pluripotent stem cells via temporal modulation of canonical Wnt signaling

(2012) X. Lian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification and functional characterization of KCNQ1 mutations around the exon 7–intron 7 junction affecting the splicing process

(2011) Keiko Tsuji–Wakisaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Sudden Cardiac Arrest Without Overt Heart Disease

(2011) Simon Modi et al.   CIRCULATION

Striking In Vivo Phenotype of a Disease-Associated Human SCN5A Mutation Producing Minimal Changes in Vitro

(2011) Hiroshi Watanabe et al.   CIRCULATION

Dominant-Negative Control of cAMP-Dependent I Ks Upregulation in Human Long-QT Syndrome Type 1

(2011) Jordi Heijman et al.   CIRCULATION RESEARCH

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

(2011) A. L. Lahti et al.   Disease Models & Mechanisms

Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation

(2011) Elena Matsa et al.   EUROPEAN HEART JOURNAL

Timothy Mutation Disrupts the Link between Activation and Inactivation in CaV1.2 Protein

(2011) Katrin Depil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

(2011) Masayuki Yazawa et al.   NATURE

Modelling the long QT syndrome with induced pluripotent stem cells

(2011) Ilanit Itzhaki et al.   NATURE

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

(2010) Yanzong Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Involvement of Caveolin in Low K+-induced Endocytic Degradation of Cell-surface Human Ether-a-go-go-related Gene (hERG) Channels

(2010) Hamid Massaeli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epigenetic memory in induced pluripotent stem cells

(2010) K. Kim et al.   NATURE

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

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

Kir 2.1 channelopathies: the Andersen–Tawil syndrome

(2010) Martin Tristani-Firouzi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Drug-Induced Long QT Syndrome

(2010) P. Kannankeril et al.   PHARMACOLOGICAL REVIEWS

Flecainide increases Kir2.1 currents by interacting with cysteine 311, decreasing the polyamine-induced rectification

(2010) R. Caballero et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cardiomyocyte Differentiation of Human Induced Pluripotent Stem Cells

(2009) Limor Zwi et al.   CIRCULATION

Cardiac sodium channel Nav1.5 and interacting proteins: Physiology and pathophysiology

(2009) Hugues Abriel   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome

(2009) Yukiko Nishio et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel

(2008) Na Pan et al.   CELLULAR SIGNALLING

α-1-Syntrophin Mutation and the Long-QT Syndrome

(2008) Geru Wu et al.   Circulation-Arrhythmia and Electrophysiology

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome

(2008) Qiuming Gong et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Long-QT Syndrome

(2008) Dan M. Roden   NEW ENGLAND JOURNAL OF MEDICINE

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

(2008) K. Ueda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA