An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 - Catecholaminergic Polymorphic Ventricular Tachycardia
出版年份 2020 全文链接
标题
An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of
CASQ2
- Catecholaminergic Polymorphic Ventricular Tachycardia
作者
关键词
-
出版物
CIRCULATION
Volume -, Issue -, Pages -
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2020-07-22
DOI
10.1161/circulationaha.120.045723
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2
- (2019) Samantha Ross et al. Stem Cell Research
- Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest
- (2019) Christian van der Werf et al. EUROPEAN HEART JOURNAL
- Clinical and genetic investigation of catecholaminergic polymorphic ventricular tachycardia in a consanguineous Tunisian family
- (2019) Sonia Nouira et al. ACTA CARDIOLOGICA
- CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia
- (2019) Qirui Li et al. Molecular Genetics & Genomic Medicine
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Calcium-Mediated Oscillation in Membrane Potentials and Atrial-Triggered Activity in Atrial Cells of Casq2R33Q/R33Q Mutation Mice
- (2018) Jian-cheng Zhang et al. Frontiers in Physiology
- Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models
- (2017) Efrat Kurtzwald-Josefson et al. HEART RHYTHM
- Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease
- (2017) Dorien Proost et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia
- (2017) Katherine Josephs et al. Molecular Genetics & Genomic Medicine
- Catecholaminergic Polymorphic Ventricular Tachycardia
- (2016) Krystien V. Lieve et al. CIRCULATION JOURNAL
- A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia
- (2016) Belinda Gray et al. HEART RHYTHM
- Catecholaminergic Polymorphic Ventricular Tachycardia in Children
- (2015) Thomas M. Roston et al. Circulation-Arrhythmia and Electrophysiology
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations
- (2015) Atara Novak et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- Single Delivery of an Adeno-Associated Viral Construct to Transfer the CASQ2 Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able to Cure the Disease From Birth to Advanced Age
- (2014) Marco Denegri et al. CIRCULATION
- The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2)
- (2013) Guy Katz et al. BIOCHEMICAL PHARMACOLOGY
- Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan
- (2013) Mihoko Kawamura et al. CIRCULATION JOURNAL
- Post-natal heart adaptation in a knock-in mouse model of calsequestrin 2-linked recessive catecholaminergic polymorphic ventricular tachycardia
- (2013) Giorgia Valle et al. EXPERIMENTAL CELL RESEARCH
- Novel Details of Calsequestrin Gel Conformationin Situ
- (2013) Stefano Perni et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Decreased RyR2 refractoriness determines myocardial synchronization of aberrant Ca2+ release in a genetic model of arrhythmia
- (2013) L. Brunello et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) Antoine Leenhardt et al. Circulation-Arrhythmia and Electrophysiology
- The Phenotype of a CASQ2 Mutation in a Saudi Family with Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) ZUHAIR N. AL-HASSNAN et al. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
- Flecainide Suppresses Defibrillator-Induced Storming in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2012) ROBERT A. HONG et al. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
- Functional consequences of stably expressing a mutant calsequestrin (CASQ2D307H) in the CASQ2 null background
- (2011) Anuradha Kalyanasundaram et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Calsequestrin 2 and arrhythmias
- (2011) Michela Faggioni et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
- Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants
- (2011) Naresh C. Bal et al. BIOCHEMICAL JOURNAL
- Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management
- (2011) Nathalie Roux-Buisson et al. HUMAN MUTATION
- Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to β-adrenergic stimulation
- (2011) Atara Novak et al. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
- Modulation of Human Ether A Gogo Related Channels by CASQ2 Contributes to Etiology of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- (2010) Karina Eckey et al. CELLULAR PHYSIOLOGY AND BIOCHEMISTRY
- Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice
- (2010) Guy Katz et al. HEART RHYTHM
- The Catecholaminergic Polymorphic Ventricular Tachycardia Mutation R33Q Disrupts the N-terminal Structural Motif That Regulates Reversible Calsequestrin Polymerization
- (2010) Naresh C. Bal et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A “rough” journey to the sarcoplasmic reticulum—implications of altered calsequestrin trafficking for cardiac arrhythmia
- (2010) Bjorn C. Knollmann JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- Rough endoplasmic reticulum to junctional sarcoplasmic reticulum trafficking of calsequestrin in adult cardiomyocytes
- (2010) Timothy P. McFarland et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling
- (2010) Uwe Kirchhefer et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia
- (2009) Meiso Hayashi et al. CIRCULATION
- The Calsequestrin Mutation CASQ2D307HDoes Not Affect Protein Stability and Targeting to the Junctional Sarcoplasmic Reticulum but Compromises Its Dynamic Regulation of Calcium Buffering
- (2009) Anuradha Kalyanasundaram et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin
- (2008) Giorgia Valle et al. BIOCHEMICAL JOURNAL
- Modulation of SR Ca Release by Luminal Ca and Calsequestrin in Cardiac Myocytes: Effects of CASQ2 Mutations Linked to Sudden Cardiac Death
- (2008) Dmitry Terentyev et al. BIOPHYSICAL JOURNAL
- Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin
- (2008) Nicoletta Rizzi et al. CIRCULATION RESEARCH
- Calsequestrin isoforms localize to different ER subcompartments: Evidence for polymer and heteropolymer-dependent localization
- (2008) Michelle L. Milstein et al. EXPERIMENTAL CELL RESEARCH
- A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations
- (2008) SAM DE LA FUENTE et al. PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now