Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects

Comparison of Effects of Pitavastatin Versus Pravastatin on Serum Proprotein Convertase Subtilisin/Kexin Type 9 Levels in Statin-Naive Patients With Coronary Artery Disease

(2013) Tsuyoshi Nozue et al.   AMERICAN JOURNAL OF CARDIOLOGY

Narrative Review: Harnessing Molecular Genetics for the Diagnosis and Management of Hypertrophic Cardiomyopathy

(2013) Libin Wang   ANNALS OF INTERNAL MEDICINE

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

(2013) Feng Lan et al.   Cell Stem Cell

Induced Pluripotent Stem Cell–Derived Cardiomyocytes

(2013) Björn C. Knollmann   CIRCULATION RESEARCH

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disease characterization using LQTS-specific induced pluripotent stem cells

(2012) Toru Egashira et al.   CARDIOVASCULAR RESEARCH

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

(2012) Alon Barsheshet et al.   CIRCULATION

Low-Density Lipoprotein Cholesterol–Lowering Effects of AMG 145, a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease in Patients With Heterozygous Familial Hypercholesterolemia

(2012) Frederick Raal et al.   CIRCULATION

A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I

(2012) Naomasa Makita et al.   Circulation-Arrhythmia and Electrophysiology

A Novel Disease Gene for Brugada Syndrome

(2012) Taisuke Ishikawa et al.   Circulation-Arrhythmia and Electrophysiology

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy

(2012) Stephen P. Page et al.   Circulation-Cardiovascular Genetics

Mortality of Inherited Arrhythmia Syndromes

(2012) Eline A. Nannenberg et al.   Circulation-Cardiovascular Genetics

Impact of Systolic Dysfunction in Genotyped Hypertrophic Cardiomyopathy

(2012) Noboru Fujino et al.   CLINICAL CARDIOLOGY

Post-prandial remnant lipoprotein metabolism in autosomal recessive hypercholesterolaemia

(2012) Hayato Tada et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report

(2012) Kentaro Nakashima et al.   HEART AND VESSELS

A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome

(2012) Li Liu et al.   HEART RHYTHM

The prognostic value of early repolarization (J wave) and ST-segment morphology after J wave in Brugada syndrome: Multicenter study in Japan

(2012) Masahiko Takagi et al.   HEART RHYTHM

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

Effect of a Monoclonal Antibody to PCSK9 on Low-Density Lipoprotein Cholesterol Levels in Statin-Intolerant Patients

(2012) David Sullivan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Increasing Serum Half-life and Extending Cholesterol Loweringin Vivoby Engineering Antibody with pH-sensitive Binding to PCSK9

(2012) Javier Chaparro-Riggers et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Effects of AMG 145 on Low-Density Lipoprotein Cholesterol Levels

(2012) Clapton S. Dias et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Safety and Efficacy of a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease, SAR236553/REGN727, in Patients With Primary Hypercholesterolemia Receiving Ongoing Stable Atorvastatin Therapy

(2012) James M. McKenney 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

Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 as monotherapy in patients with hypercholesterolaemia (MENDEL): a randomised, double-blind, placebo-controlled, phase 2 study

(2012) Michael J Koren et al.   LANCET

Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 in combination with a statin in patients with hypercholesterolaemia (LAPLACE-TIMI 57): a randomised, placebo-controlled, dose-ranging, phase 2 study

(2012) Robert P Giugliano et al.   LANCET

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

(2012) Benjamin F Voight et al.   LANCET

Effect of a Monoclonal Antibody to PCSK9 on LDL Cholesterol

(2012) Evan A. Stein et al.   NEW ENGLAND JOURNAL OF MEDICINE

Atorvastatin with or without an Antibody to PCSK9 in Primary Hypercholesterolemia

(2012) Eli M. Roth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy and Safety of Coadministration of Rosuvastatin , Ezetimibe , and Colestimide in Heterozygous Familial Hypercholesterolemia

(2011) Masa-aki Kawashiri et al.   AMERICAN JOURNAL OF CARDIOLOGY

A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

(2011) Hayato Tada et al.   ATHEROSCLEROSIS

Comparison of effects of bezafibrate and fenofibrate on circulating proprotein convertase subtilisin/kexin type 9 and adipocytokine levels in dyslipidemic subjects with impaired glucose tolerance or type 2 diabetes mellitus: Results from a crossover study

(2011) Tohru Noguchi et al.   ATHEROSCLEROSIS

Genetic Screening and Double Mutation in Japanese Patients With Hypertrophic Cardiomyopathy

(2011) Toru Kubo et al.   CIRCULATION JOURNAL

Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels

(2011) Wataru Shimizu et al.   CIRCULATION RESEARCH

KCNE5 ( KCNE1L ) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

(2011) Seiko Ohno et al.   Circulation-Arrhythmia and Electrophysiology

MOG1

(2011) Darouna Kattygnarath et al.   Circulation-Cardiovascular Genetics

Altered Metabolism of Low-Density Lipoprotein and Very-Low-Density Lipoprotein Remnant in Autosomal Recessive Hypercholesterolemia

(2011) Hayato Tada et al.   Circulation-Cardiovascular Genetics

Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects

(2011) Rumiko Ohtani et al.   CLINICA CHIMICA ACTA

Transient outward current (Ito) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

(2011) John R. Giudicessi et al.   HEART RHYTHM

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors

(2011) Barry J. Maron et al.   HEART RHYTHM

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Nav1.5 and Kv4.3 channel currents

(2011) Dan Hu et al.   HEART RHYTHM

Effects of the CETP Inhibitor Evacetrapib Administered as Monotherapy or in Combination With Statins on HDL and LDL Cholesterol

(2011) Stephen J. Nicholls et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) Christian van der Werf et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan

(2010) Hiroshi Mabuchi et al.   ATHEROSCLEROSIS

Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome

(2010) V. Probst et al.   CIRCULATION

Impact of Renin-Angiotensin System Polymorphisms on Development of Systolic Dysfunction in Hypertrophic Cardiomyopathy

(2010) Akira Funada et al.   CIRCULATION JOURNAL

Atrioventricular Block-Induced Torsades de Pointes With Clinical and Molecular Backgrounds Similar to Congenital Long QT Syndrome

(2010) Yuko Oka et al.   CIRCULATION JOURNAL

Short QT Syndrome: From Bench to Bedside

(2010) Chinmay Patel et al.   Circulation-Arrhythmia and Electrophysiology

Genetics of hypertrophic cardiomyopathy

(2010) Tetsuo Konno et al.   CURRENT OPINION IN CARDIOLOGY

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

(2010) P. Charron et al.   EUROPEAN HEART JOURNAL

The S447X variant of lipoprotein lipase gene is inversely associated with severity of coronary artery disease

(2010) Mehmet Agirbasli et al.   HEART AND VESSELS

The nonpeptide AVE0991 attenuates myocardial hypertrophy as induced by angiotensin II through downregulation of transforming growth factor-β1/Smad2 expression

(2010) Jian-Gui He et al.   HEART AND VESSELS

Abundant expression of KCNE1 in the left ventricle of the miniature pig

(2010) Kaori Soma et al.   HEART AND VESSELS

Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles

(2010) Kenshi Hayashi et al.   HEART RHYTHM

Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study

(2010) Hideki Itoh et al.   HEART RHYTHM

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

(2010) Argelia Medeiros-Domingo et al.   HEART RHYTHM

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

(2010) Elena Burashnikov et al.   HEART RHYTHM

Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin-2 Mutation

(2010) RONNY ALCALAI et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

(2010) Polakit Teekakirikul et al.   JOURNAL OF CLINICAL INVESTIGATION

A KCR1 variant implicated in susceptibility to the long QT syndrome

(2010) Kenshi Hayashi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

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

Safety of Anacetrapib in Patients with or at High Risk for Coronary Heart Disease

(2010) Christopher P. Cannon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy

(2010) T. Konno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impact of QT Variables on Clinical Outcome of Genotyped Hypertrophic Cardiomyopathy

(2009) Katsuharu Uchiyama et al.   ANNALS OF NONINVASIVE ELECTROCARDIOLOGY

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation

(2009) Tohru Noguchi et al.   ATHEROSCLEROSIS

Effect of Rosuvastatin on Coronary Atheroma in Stable Coronary Artery Disease

(2009) Tadateru Takayama et al.   CIRCULATION JOURNAL

Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome

(2009) Hideki Itoh et al.   Circulation-Arrhythmia and Electrophysiology

Protein Kinase A-Dependent Biophysical Phenotype for V227F-KCNJ2 Mutation in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Amanda L. Vega et al.   Circulation-Arrhythmia and Electrophysiology

Long-Term Prognosis of Probands With Brugada-Pattern ST-Elevation in Leads V 1 –V 3

(2009) Shiro Kamakura et al.   Circulation-Arrhythmia and Electrophysiology

A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

(2009) Dan Hu et al.   Circulation-Cardiovascular Genetics

Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations

(2009) Kenshi Hayashi et al.   CLINICAL SCIENCE

NovelKCNE3mutation reduces repolarizing potassium current and associated with long QT syndrome

(2009) Seiko Ohno et al.   HUMAN MUTATION

Role of HCN4 channel in preventing ventricular arrhythmia

(2009) Kazuo Ueda et al.   JOURNAL OF HUMAN GENETICS

Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy

(2009) Takuro Arimura et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

(2009) Wataru Shimizu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

(2009) Hiroshi Watanabe et al.   NATURE MEDICINE

Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome

(2008) Ilan Goldenberg et al.   CIRCULATION

Clinical Impact of Genetic Studies in Lethal Inherited Cardiac Arrhythmias

(2008) Wataru Shimizu   CIRCULATION JOURNAL

Cholesterol efflux from J774 macrophages and Fu5AH hepatoma cells to serum is preserved in CETP-deficient patients

(2008) Kenji Miwa et al.   CLINICA CHIMICA ACTA

Assessment of QT Intervals and Prevalence of Short QT Syndrome in Japan

(2008) Akira Funada et al.   CLINICAL CARDIOLOGY

A novel β-myosin heavy chain gene mutation, p.Met531Arg, identified in isolated left ventricular non-compaction in humans, results in left ventricular hypertrophy that progresses to dilation in a mouse model

(2008) Tomoya Kaneda et al.   CLINICAL SCIENCE

Gender Differences in Clinical Manifestations of Brugada Syndrome

(2008) Begoña Benito et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Long-QT Syndrome

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

Decreased post-prandial triglyceride response and diminished remnant lipoprotein formation in cholesteryl ester transfer protein (CETP) deficiency

(2007) Akihiro Inazu et al.   ATHEROSCLEROSIS