Full Text Journal Articles by
Author Julianne Wojciak

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Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.

Sofia Hammami Bomholtz, Marwan Refaat, Annette Buur Steffensen, Jens-Peter David, Karin Espinosa, Robert Nussbaum, Julianne Wojciak, Bo Hjorth Bentzen, Melvin Scheinman, Nicole Schmitt,

BACKGROUND:The slow delayed rectifier potassium current IKs is crucial for the repolarization of the cardiac action potential. It is conducted by the voltage-gated channel KV 7.1 encoded by KCNQ1, together with its β-subunit KCNE1. Loss-of-function (LOF) mutations in KCNQ1 have been associated with heritable cardiac arrhythmias such as Long QT ... Read more >>

Pacing Clin Electrophysiol (Pacing and clinical electrophysiology : PACE)
[2020, 43(2):210-216]

Cited: 0 times

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The many faces of early repolarization syndrome: A single-center case series.

Aleksandr Voskoboinik, Henry Hsia, Joshua Moss, Vasanth Vedantham, Ronn E Tanel, Akash Patel, Julianne Wojciak, Natalie Downs, Melvin M Scheinman,

BACKGROUND:Early repolarization syndrome (ERS) is a rare but increasingly recognized cause of malignant ventricular arrhythmias. OBJECTIVE:The purpose of this study was to characterize the presentations and treatments of ERS at our institution. METHODS:We performed a retrospective chart review of all patients presenting to our institution between 2008 and 2019 with ... Read more >>

Heart Rhythm (Heart rhythm)
[2020, 17(2):273-281]

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The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia

Erron Titus, Frederick Deiter, Chenxu Shi, Julianne Wojciak, Melvin Scheinman, Natalia Jura, Rahul Deo,

Mutations in the calcium-binding protein calsequestrin cause a highly lethal familial arrhythmia, catecholaminergic polymorphic ventricular tachycardia (CPVT). In vivo, calsequestrin multimerizes into filaments, but a compelling atomic-resolution structure of a calsequestrin filament is lacking. We report a crystal structure of a cardiac calsequestrin filament with supporting mutation analysis provided by ... Read more >>

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Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Lia Crotti, Carla Spazzolini, David J Tester, Alice Ghidoni, Alban-Elouen Baruteau, Britt-Maria Beckmann, Elijah R Behr, Jeffrey S Bennett, Connie R Bezzina, Zahurul A Bhuiyan, Alpay Celiker, Marina Cerrone, Federica Dagradi, Gaetano M De Ferrari, Susan P Etheridge, Meena Fatah, Pablo Garcia-Pavia, Saleh Al-Ghamdi, Robert M Hamilton, Zuhair N Al-Hassnan, Minoru Horie, Juan Jimenez-Jaimez, Ronald J Kanter, Juan P Kaski, Maria-Christina Kotta, Najim Lahrouchi, Naomasa Makita, Gabrielle Norrish, Hans H Odland, Seiko Ohno, John Papagiannis, Gianfranco Parati, Nicole Sekarski, Kristian Tveten, Matteo Vatta, Gregory Webster, Arthur A M Wilde, Julianne Wojciak, Alfred L George, Michael J Ackerman, Peter J Schwartz,

AIMS:Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1-3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with ... Read more >>

Eur. Heart J. (European heart journal)
[2019, 40(35):2964-2975]

Cited: 1 time

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Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome.

Federico Denti, Bo Hjorth Bentzen, Julianne Wojciak, Nancy Mutsaers Thomsen, Melvin Scheinman, Nicole Schmitt,

BACKGROUND:Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS:The ... Read more >>

Pacing Clin Electrophysiol (Pacing and clinical electrophysiology : PACE)
[2018, 41(6):620-626]

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Atrial standstill in a pediatric patient with associated caveolin-3 mutation.

Dana B Gal, Julianne Wojciak, Jennifer Perera, Ronn E Tanel, Akash R Patel,

HeartRhythm Case Rep (HeartRhythm case reports)
[2017, 3(11):513-516]

Cited: 0 times

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Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Jason D Roberts, Andrew D Krahn, Michael J Ackerman, Ram K Rohatgi, Arthur J Moss, Babak Nazer, Rafik Tadros, Brenda Gerull, Shubhayan Sanatani, Yanushi D Wijeyeratne, Alban-Elouen Baruteau, Alison R Muir, Benjamin Pang, Julia Cadrin-Tourigny, Mario Talajic, Lena Rivard, David J Tester, Taylor Liu, Isaac R Whitman, Julianne Wojciak, Susan Conacher, Lorne J Gula, Peter Leong-Sit, Jaimie Manlucu, Martin S Green, Robert Hamilton, Jeff S Healey, Coeli M Lopes, Elijah R Behr, Arthur A Wilde, Michael H Gollob, Melvin M Scheinman,

BACKGROUND:Insight into type 6 long-QT syndrome (LQT6), stemming from mutations in the KCNE2-encoded voltage-gated channel β-subunit, is limited. We sought to further characterize its clinical phenotype. METHODS AND RESULTS:Individuals with reported pathogenic KCNE2 mutations identified during arrhythmia evaluation were collected from inherited arrhythmia clinics and the Rochester long-QT syndrome (LQTS) ... Read more >>

Circ Arrhythm Electrophysiol (Circulation. Arrhythmia and electrophysiology)
[2017, 10(8):]

Cited: 5 times

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Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia.

Jason D Roberts, Michael H Gollob, Charlie Young, Sean P Connors, Chris Gray, Stephen B Wilton, Martin S Green, Dennis W Zhu, Kathleen A Hodgkinson, Annie Poon, Qiuju Li, Nathan Orr, Anthony S Tang, George J Klein, Julianne Wojciak, Joan Campagna, Jeffrey E Olgin, Nitish Badhwar, Vasanth Vedantham, Gregory M Marcus, Pui-Yan Kwok, Rahul C Deo, Melvin M Scheinman,

OBJECTIVES:This study sought to investigate for an underlying genetic etiology in cases of apparent idiopathic bundle branch re-entrant ventricular tachycardia (BBRVT). BACKGROUND:BBRVT is a life-threatening arrhythmia occurring secondary to macro-re-entry within the His-Purkinje system. Although classically associated with dilated cardiomyopathy, BBRVT may also occur in the setting of isolated, unexplained conduction system ... Read more >>

JACC Clin Electrophysiol (JACC. Clinical electrophysiology)
[2017, 3(3):276-288]

Cited: 3 times

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Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.

Marwan M Refaat, Paul Tang, Nassier Harfouch, Julianne Wojciak, Pui-Yan Kwok, Melvin Scheinman,

Arrhythmogenic right ventricular cardiomyopathy is a rare cardiomyopathy that might be asymptomatic or symptomatic, causing palpations or syncope, and might lead to sudden cardiac death. It is recommended that physical exertion be reduced. It is also recommended that those with syncope and ventricular tachycardia/ventricular fibrillation have an implantable cardioverter-defibrillator placed. ... Read more >>

Card Electrophysiol Clin (Cardiac electrophysiology clinics)
[2016, 8(1):217-221]

Cited: 1 time

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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.

Annette Buur Steffensen, Marwan M Refaat, Jens-Peter David, Amer Mujezinovic, Kirstine Calloe, Julianne Wojciak, Robert L Nussbaum, Melvin M Scheinman, Nicole Schmitt,

The Long QT syndrome (LQTS) is a disorder characterized by a prolongation of the QT interval and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. Our objective was to (1) determine the incidence of variants with unknown significance (VUS) in a cohort of ... Read more >>

Sci Rep (Scientific reports)
[2015, 5:10009]

Cited: 5 times

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Calcium transients closely reflect prolonged action potentials in iPSC models of inherited cardiac arrhythmia.

C Ian Spencer, Shiro Baba, Kenta Nakamura, Ethan A Hua, Marie A F Sears, Chi-cheng Fu, Jianhua Zhang, Sadguna Balijepalli, Kiichiro Tomoda, Yohei Hayashi, Paweena Lizarraga, Julianne Wojciak, Melvin M Scheinman, Katriina Aalto-Setälä, Jonathan C Makielski, Craig T January, Kevin E Healy, Timothy J Kamp, Shinya Yamanaka, Bruce R Conklin,

Long-QT syndrome mutations can cause syncope and sudden death by prolonging the cardiac action potential (AP). Ion channels affected by mutations are various, and the influences of cellular calcium cycling on LQTS cardiac events are unknown. To better understand LQTS arrhythmias, we performed current-clamp and intracellular calcium ([Ca(2+)]i) measurements on ... Read more >>

Stem Cell Reports (Stem cell reports)
[2014, 3(2):269-281]

Cited: 36 times

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Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

Kirstine Calloe, Marwan M Refaat, Soren Grubb, Julianne Wojciak, Joan Campagna, Nancy Mutsaers Thomsen, Robert L Nussbaum, Melvin M Scheinman, Nicole Schmitt,

BACKGROUND: Brugada syndrome is a heterogeneous heart rhythm disorder characterized by an atypical right bundle block pattern with ST-segment elevation and T-wave inversion in the right precordial leads. Loss-of-function mutations in SCN5A encoding the cardiac sodium channel Na(V)1.5 are associated with Brugada syndrome. We found novel mutations in SCN5A in ... Read more >>

Circ Arrhythm Electrophysiol (Circulation. Arrhythmia and electrophysiology)
[2013, 6(1):177-184]

Cited: 12 times

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A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.

Albano C Meli, Marwan M Refaat, Miroslav Dura, Steven Reiken, Anetta Wronska, Julianne Wojciak, Joan Carroll, Melvin M Scheinman, Andrew R Marks,

Mutations in the cardiac type 2 ryanodine receptor (RyR2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). CPVT-associated RyR2 mutations cause fatal ventricular arrhythmias in young individuals during β-adrenergic stimulation.This study sought to determine the effects of a novel RyR2-G230C mutation and whether this mutation and RyR2-P2328S alter the ... Read more >>

Circ. Res. (Circulation research)
[2011, 109(3):281-290]

Cited: 28 times

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