当前位置： SCI文献检索 > HEART RHYTHM期刊下所有文献 > Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations.

Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations.

Abstract：

BACKGROUND:Arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to mutations in desmosomal proteins, including plakophilin-2 (PKP2). Little is known about the changes in cellular function and structure that follow expression of ARVC-relevant PKP2 mutations. OBJECTIVE:The purpose of this study was to investigate the function and distribution of an ARVC-relevant PKP2 mutant where arginine at position 79 was replaced by a stop codon (R79x). METHODS:Results were compared with those obtained with mutation 179fs (frameshift at position 179). Mutant constructs were introduced by adenoviral infection into neonatal rat ventricular myocytes in culture. RESULTS:Both mutant proteins failed to preferentially localize to sites of cell-cell apposition. Their expression did not disrupt localization of endogenous PKP2, connexin-43 (Cx43), or desmoplakin (DP). However, we observed reduced abundance of Cx43 after R79x expression. Early truncation of PKP2 at position 79 also prevented its physical interaction with both DP and Cx43. Finally, R79x expression correlated with loss of expression of HSP90, a protein relevant to cardiomyocyte apoptosis. CONCLUSION:These results provide the first observations of the cellular/molecular phenotype consequent to these PKP2 mutations and give insight into the possible cellular substrates that lead to ARVC.

journal_name

Heart Rhythm

journal_title

Heart rhythm

authors

Joshi-Mukherjee R,Coombs W,Musa H,Oxford E,Taffet S,Delmar M

doi

10.1016/j.hrthm.2008.09.009

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

1715-23

issue

12

eissn

1547-5271

issn

1556-3871

pii

S1547-5271(08)00877-1

journal_volume

5

pub_type

杂志文章

相关文献

HEART RHYTHM文献大全
  • Complete antral encirclement is not required for pulmonary vein isolation.

    abstract：BACKGROUND:Complete circumferential antral ablation may not be necessary for successful pulmonary vein (PV) isolation in patients with paroxysmal atrial fibrillation (AF). OBJECTIVE:We examined the feasibility of a noncircumferential approach limited to segments of the antra required for PV-atrial conduction. METHODS...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2010.09.069

    authors： Sy RW,Gula LJ,Leong-Sit P,Klein GJ,Yee R,Krahn AD,Bentley C,Razak S,Skanes AC

    更新日期：2011-01-01 00:00:00

  • Prospective, multicenter validation of a clinical risk score for left atrial arrhythmogenic substrate based on voltage analysis: DR-FLASH score.

    abstract：BACKGROUND:Left atrial (LA) low-voltage areas (LVAs) are frequently observed in patients with atrial fibrillation (AF) and may predict AF recurrence after catheter ablation. OBJECTIVE:The aim of this study was to develop and validate a clinical tool to identify LVAs that are associated with AF recurrence after pulmona...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.hrthm.2015.07.003

    authors： Kosiuk J,Dinov B,Kornej J,Acou WJ,Schönbauer R,Fiedler L,Buchta P,Myrda K,Gąsior M,Poloński L,Kircher S,Arya A,Sommer P,Bollmann A,Hindricks G,Rolf S

    更新日期：2015-11-01 00:00:00

  • Arrhythmogenicity of weight-loss supplements marketed on the Internet.

    abstract：BACKGROUND:We examined nonprescription weight-loss supplements marketed on the Internet for ingredients with potential arrhythmogenic and life-threatening cardiac adverse effects. OBJECTIVE:We aimed to define the risks of life-threatening cardiac adverse effects that are associated with weight-loss supplements markete...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.02.021

    authors： Nazeri A,Massumi A,Wilson JM,Frank CM,Bensler M,Cheng J,Saeed M,Rasekh A,Razavi M

    更新日期：2009-05-01 00:00:00

  • A common missense variant in the neuregulin 1 gene is associated with both schizophrenia and sudden cardiac death.

    abstract：BACKGROUND:Both schizophrenia and epilepsy have been linked to increased risk of sudden cardiac death (SCD). We hypothesized that DNA variants within genes previously associated with schizophrenia and epilepsy may contribute to an increased risk of SCD. OBJECTIVE:To investigate the contribution to SCD susceptibility o...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.hrthm.2013.03.020

    authors： Huertas-Vazquez A,Teodorescu C,Reinier K,Uy-Evanado A,Chugh H,Jerger K,Ayala J,Gunson K,Jui J,Newton-Cheh C,Albert CM,Chugh SS

    更新日期：2013-07-01 00:00:00

  • A retrospective analysis of proceduralist-directed, nurse-administered propofol sedation for implantable cardioverter-defibrillator procedures.

    abstract：BACKGROUND:There is controversy whether proceduralist-directed, nurse-administered propofol sedation (PDNAPS) is safe. OBJECTIVE:To assess the frequency of adverse events when PDNAPS is used for implantable cardioverter-defibrillator (ICD)-related procedures and to determine the patient and procedural characteristics ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2011.10.009

    authors： Sayfo S,Vakil KP,Alqaqa'a A,Flippin H,Bhakta D,Yadav AV,Miller JM,Groh WJ

    更新日期：2012-03-01 00:00:00

  • Optimizing cardiac resynchronization therapy to minimize ATP consumption heterogeneity throughout the left ventricle: a simulation analysis using a canine heart failure model.

    abstract：BACKGROUND:Cardiac resynchronization therapy (CRT) has been demonstrated to lead to restoration of oxygen consumption homogeneity throughout the left ventricle (LV), which is important for long-term reverse remodeling of the ventricles. However, research has focused exclusively on identifying the LV pacing sites that l...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2014.03.021

    authors： Hu Y,Gurev V,Constantino J,Trayanova N

    更新日期：2014-06-01 00:00:00

  • Fatal arrhythmias: Another reason why doctors remain cautious about chloroquine/hydroxychloroquine for treating COVID-19.

    abstract：BACKGROUND:Early during the current coronavirus disease 19 (COVID-19) pandemic, hydroxychloroquine (HCQ) received a significant amount of attention as a potential antiviral treatment, such that it became one of the most commonly prescribed medications for COVID-19 patients. However, not only has the effectiveness of HC...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2020.05.030

    authors： Uzelac I,Iravanian S,Ashikaga H,Bhatia NK,Herndon C,Kaboudian A,Gumbart JC,Cherry EM,Fenton FH

    更新日期：2020-09-01 00:00:00

  • Catheter ablation using the third-generation cryoballoon provides an enhanced ability to assess time to pulmonary vein isolation facilitating the ablation strategy: Short- and long-term results of a multicenter study.

    abstract：BACKGROUND:Limited data exist on cryoablation of atrial fibrillation (Cryo-AF) using the newly available third-generation (Arctic Front Advance-Short Tip [AFA-ST]) cryoballoon. OBJECTIVE:In this multicenter study, we evaluated the safety and efficacy of Cryo-AF using the AFA-ST vs the second-generation (Arctic Front A...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.hrthm.2016.08.011

    authors： Aryana A,Kowalski M,O'Neill PG,Koo CH,Lim HW,Khan A,Hokanson RB,Bowers MR,Kenigsberg DN,Ellenbogen KA,Cryo-DOSING Investigators.

    更新日期：2016-12-01 00:00:00

  • Rationale and objectives for ECG screening in infancy.

    abstract：:Electrocardiographic (ECG) screening in infants and children who may be at risk of sudden cardiac death (SCD) is controversial, and both rational and emotional arguments have often been given equal weight. We all have direct experience in this field, but have different backgrounds and have expressed divergent views on...

    journal_title：Heart rhythm

    pub_type： 杂志文章,评审

    doi：10.1016/j.hrthm.2014.09.047

    authors： Saul JP,Schwartz PJ,Ackerman MJ,Triedman JK

    更新日期：2014-12-01 00:00:00

  • Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

    abstract：BACKGROUND:Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively). OBJECTIVES:The purpose of this study was to evaluate the extent of genotypic and phenotypic heterog...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2006.03.025

    authors： Tester DJ,Arya P,Will M,Haglund CM,Farley AL,Makielski JC,Ackerman MJ

    更新日期：2006-07-01 00:00:00

  • The positive frequency-dependent electrophysiological effects of the IKur inhibitor XEN-D0103 are desirable for the treatment of atrial fibrillation.

    abstract：BACKGROUND:Selective inhibitors of Kv1.5 channels are being developed for the treatment of atrial fibrillation (AF). OBJECTIVES:The purpose of this study was to investigate the effects of the highly selective Kv1.5 inhibitor XEN-D0103 on human atrial action potentials (APs) at high excitation rates and to assess safet...

    journal_title：Heart rhythm

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.hrthm.2015.10.003

    authors： Ford J,Milnes J,El Haou S,Wettwer E,Loose S,Matschke K,Tyl B,Round P,Ravens U

    更新日期：2016-02-01 00:00:00

  • Molecular mechanisms of adrenergic stimulation in the heart.

    abstract：:Increased cardiac output in response to beta-adrenergic receptor stimulation is achieved by rapid alteration of the activity of cardiac ion channels, pumps, and exchangers. Over the past decade, the discovery of macromolecular complexes, which include the ion channels and pumps and the kinases that control their level...

    journal_title：Heart rhythm

    pub_type： 杂志文章,评审

    doi：10.1016/j.hrthm.2010.02.013

    authors： Sampson KJ,Kass RS

    更新日期：2010-08-01 00:00:00

  • Does the number of simultaneously activated electrodes during phased RF multielectrode ablation of atrial fibrillation influence the incidence of silent cerebral microembolism?

    abstract：BACKGROUND:Asymptomatic cerebral embolus (ACE) detected by diffusion-weighted magnetic resonance imaging (DW-MRI) following atrial fibrillation (AF) ablation has been reported at varying rates with different ablation techniques. OBJECTIVE:To evaluate the incidence of ACE after phased radiofrequency ablation for AF wit...

    journal_title：Heart rhythm

    pub_type： 杂志文章,随机对照试验

    doi：10.1016/j.hrthm.2013.04.005

    authors： Wieczorek M,Hoeltgen R,Brueck M

    更新日期：2013-07-01 00:00:00

  • Long-term follow-up of patients with cardiac sarcoidosis and implantable cardioverter-defibrillators.

    abstract：BACKGROUND:Ventricular tachyarrhythmias are an important cause of morbidity and mortality in cardiac sarcoidosis. To date, the prevalence and incidence of ventricular tachycardia/ventricular fibrillation (VT/VF) in this population remain unknown. OBJECTIVES:To determine the prevalence and incidence of ventricular tach...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2012.02.010

    authors： Betensky BP,Tschabrunn CM,Zado ES,Goldberg LR,Marchlinski FE,Garcia FC,Cooper JM

    更新日期：2012-06-01 00:00:00

  • Ventricular tachycardia originating from the aortic sinus cusp in patients with idiopathic dilated cardiomyopathy.

    abstract：BACKGROUND:Ventricular tachycardia (VT) in patients with idiopathic dilated cardiomyopathy often originates from the basal left ventricular myocardium and also can originate from the conduction system. The basal left ventricular myocardium reaches to the base of the aortic sinus cusps. OBJECTIVE:The purpose of this st...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2010.10.045

    authors： Yokokawa M,Good E,Crawford T,Jongnarangsin K,Chugh A,Pelosi F Jr,Oral H,Morady F,Bogun F

    更新日期：2011-03-01 00:00:00

  • Impact of atrial prevention pacing on atrial fibrillation burden: primary results of the Study of Atrial Fibrillation Reduction (SAFARI) trial.

    abstract：BACKGROUND:The role of atrial-based pacing algorithms in preventing atrial fibrillation (AF) remains controversial. The inconsistent results noted in previous trials may be due in part to differences in endpoints, pacing algorithms, and study design. SAFARI, a worldwide, prospective, randomized clinical trial, was desi...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1016/j.hrthm.2008.11.033

    authors： Gold MR,Adler S,Fauchier L,Haffajee C,Ip J,Kainz W,Kawasaki R,Prakash A,Táborský M,Waller T,Wilson V,Li S,Hoffmann E,SAFARI Investigators.

    更新日期：2009-03-01 00:00:00

  • Interatrial conduction can be accurately determined using standard 12-lead electrocardiography: validation of P-wave morphology using electroanatomic mapping in man.

    abstract：BACKGROUND:Different P-wave morphologies during sinus rhythm as displayed on standard ECGs have been postulated to correspond to differences in interatrial conduction. OBJECTIVE:The purpose of this study was to evaluate the hypothesis by comparing P-wave morphologies using left atrial activation maps. METHODS:Twenty-...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2007.12.017

    authors： Holmqvist F,Husser D,Tapanainen JM,Carlson J,Jurkko R,Xia Y,Havmöller R,Kongstad O,Toivonen L,Olsson SB,Platonov PG

    更新日期：2008-03-01 00:00:00

  • High-density substrate-guided ventricular tachycardia ablation: role of activation mapping in an attempt to improve procedural effectiveness.

    abstract：BACKGROUND:Advanced techniques of electroanatomical mapping efficiently guide ventricular tachycardia (VT) ablation strategies; in this context, the adjunctive value of combining activation mapping (AMap) to improve accuracy has not been elucidated. OBJECTIVE:To investigate whether conventional AMap further contribute...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2013.09.059

    authors： Carbucicchio C,Ahmad Raja N,Di Biase L,Volpe V,Dello Russo A,Trivedi C,Bartoletti S,Zucchetti M,Casella M,Russo E,Santangeli P,Moltrasio M,Tundo F,Fassini G,Natale A,Tondo C

    更新日期：2013-12-01 00:00:00

  • Predicted longevity of contemporary cardiac implantable electronic devices: A call for industry-wide "standardized" reporting.

    abstract：BACKGROUND:Battery longevity is an important factor that may influence the selection of cardiac implantable electronic devices (CIEDs). However, there remains a lack of industry-wide standardized reporting of predicted CIED longevity to facilitate informed decision-making for implanting physicians and payers. OBJECTIV...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2018.07.029

    authors： Munawar DA,Mahajan R,Linz D,Wong GR,Khokhar KB,Thiyagarajah A,Kadhim K,Emami M,Mishima R,Elliott AD,Middeldorp ME,Roberts-Thompson KC,Young GD,Sanders P,Lau DH

    更新日期：2018-12-01 00:00:00

  • Pulmonary vein antrum isolation.

    abstract：:Pulmonary vein antrum isolation offers safe and effective treatment of atrial fibrillation by eliminating the potential triggers of this arrhythmia. The pulmonary vein antra encompass, in addition to the pulmonary veins, the left atrial roof and posterior wall and, in the case of the right pulmonary vein antra, a port...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2006.12.036

    authors： Kanj M,Wazni O,Natale A

    更新日期：2007-03-01 00:00:00

  • Time until diagnosis of clinical events with different remote monitoring systems in implantable cardioverter-defibrillator patients.

    abstract：BACKGROUND:Remote monitoring (RM) is an established technology integrated into routine follow-up of patients with an implantable cardioverter-defibrillator (ICD). Current RM systems differ according to transmission frequency and alert definition. OBJECTIVE:The purpose of this study was to compare the time difference b...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2018.05.025

    authors： Söth-Hansen M,Witt CT,Rasmussen M,Kristensen J,Gerdes C,Nielsen JC

    更新日期：2018-11-01 00:00:00

  • Surface electrocardiogram characteristics of atrial tachycardias occurring after pulmonary vein isolation.

    abstract：OBJECTIVE:The purpose of this study was to describe the surface electrocardiogram (ECG) morphology of common atrial tachycardias (ATs) that occur after pulmonary vein (PV) isolation. BACKGROUND:Focal ATs from reconnected PVs and macroreentrant mitral annular (MA) flutter are the most common form of ATs occurring after...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2007.05.008

    authors： Gerstenfeld EP,Dixit S,Bala R,Callans DJ,Lin D,Sauer W,Garcia F,Cooper J,Russo AM,Marchlinski FE

    更新日期：2007-09-01 00:00:00

  • Autonomic regulation therapy suppresses quantitative T-wave alternans and improves baroreflex sensitivity in patients with heart failure enrolled in the ANTHEM-HF study.

    abstract：BACKGROUND:Autonomic regulation therapy (ART) with chronic vagus nerve stimulation improves ventricular function in patients with chronic heart failure, but its effects on quantitative T-wave alternans (TWA), ventricular tachycardia (VT), baroreflex sensitivity, and autonomic tone remained unknown. OBJECTIVE:Effects o...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1016/j.hrthm.2015.11.030

    authors： Libbus I,Nearing BD,Amurthur B,KenKnight BH,Verrier RL

    更新日期：2016-03-01 00:00:00

  • Outcomes of long-standing persistent atrial fibrillation ablation: a systematic review.

    abstract：BACKGROUND:Ablation of long-standing persistent atrial fibrillation (AF) is highly variable, with differing techniques and outcomes. OBJECTIVE:The purpose of this study was to undertake a systematic review of the literature with regard to the impact of ablation technique on the outcomes of long-standing persistent AF ...

    journal_title：Heart rhythm

    pub_type： 杂志文章,评审

    doi：10.1016/j.hrthm.2010.01.017

    authors： Brooks AG,Stiles MK,Laborderie J,Lau DH,Kuklik P,Shipp NJ,Hsu LF,Sanders P

    更新日期：2010-06-01 00:00:00

  • Pathophysiologic basis of autonomic ganglionated plexus ablation in patients with atrial fibrillation.

    abstract：:The intrinsic cardiac autonomic nervous system (ganglionated plexuses [GP]) plays a significant role in the initiation and maintenance of atrial fibrillation (AF) in both experimental models and AF patients. Left atrial GP, located in epicardial fat pads and the ligament of Marshall, contain afferent neurons from the ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.07.029

    authors： Nakagawa H,Scherlag BJ,Patterson E,Ikeda A,Lockwood D,Jackman WM

    更新日期：2009-12-01 00:00:00

  • Preshock phase singularity and the outcome of ventricular defibrillation.

    abstract：BACKGROUND:Phase singularity (PS) is a topological defect that serves as a source of ventricular fibrillation (VF). Whether or not the quantity of preshock PS determines defibrillation outcome is unclear. OBJECTIVE:The purpose of this study was to test the hypothesis that the number of PSs at the time of shock is an i...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2007.02.028

    authors： Hayashi H,Lin SF,Chen PS

    更新日期：2007-07-01 00:00:00

  • Epicardial but not endocardial premature stimulation initiates ventricular tachyarrhythmia in canine in vitro model of long QT syndrome.

    abstract：OBJECTIVES:To explore the mechanism, we tested the hypothesis that premature epicardial stimulation transiently increased the dispersion of repolarization leading to VT. BACKGROUND:Premature stimulation initiated ventricular tachycardia (VT) when applied to the epicardium but not to the endocardium in a canine model o...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2004.07.019

    authors： Ueda N,Zipes DP,Wu J

    更新日期：2004-12-01 00:00:00

  • Association between ventricular pacing and persistent atrial fibrillation in patients indicated to elective pacemaker replacement: Results of the Prefer for Elective Replacement MVP (PreFER MVP) randomized study.

    abstract：BACKGROUND:Pacing in the right ventricle can cause a variety of detrimental effects, including atrial tachyarrhythmias (atrial tachycardia [AT]/atrial fibrillation [AF]). OBJECTIVE:The purpose of this study was to evaluate the incidence and predictors of persistent AT/AF in patients with long-term exposure to ventricu...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1016/j.hrthm.2015.06.041

    authors： Ricci RP,Botto GL,Bénézet JM,Nielsen JC,De Roy L,Piot O,Quesada A,Quaglione R,Vaccari D,Mangoni L,Grammatico A,Kozák M,PreFER MVP Investigators.

    更新日期：2015-11-01 00:00:00

  • Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.

    abstract：BACKGROUND:Sudden cardiac death is frequent in patients with lamin A/C gene (LMNA) mutations and may be related to ventricular arrhythmias (VA). OBJECTIVE:To evaluate a strategy of prophylactic implantable cardioverter-defibrillator (ICD) implantation in LMNA mutation carriers with significant cardiac conduction disor...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2013.06.020

    authors： Anselme F,Moubarak G,Savouré A,Godin B,Borz B,Drouin-Garraud V,Gay A

    更新日期：2013-10-01 00:00:00

  • Left cardiac sympathetic denervation reduces skin sympathetic nerve activity in patients with long QT syndrome.

    abstract：BACKGROUND:Although left cardiac sympathetic denervation (LCSD) is an effective antiarrhythmic therapy for patients with long QT syndrome (LQTS), direct evidence of reduced sympathetic activity after LCSD in humans is limited. OBJECTIVE:The purpose of this study was to assess skin sympathetic nerve activity (SKNA) in ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2020.03.023

    authors： Han J,Ackerman MJ,Moir C,Cai C,Xiao PL,Zhang P,Briske KA,Zheng LR,Chen PS,Cha YM

    更新日期：2020-10-01 00:00:00