Search Results - "CERRONE, Marina"

Desmosomes and the sodium channel complex: Implications for arrhythmogenic cardiomyopathy and Brugada syndrome by Cerrone, Marina, Delmar, Mario

“…Abstract Mutations in proteins of the desmosome are associated with arrhythmogenic cardiomyopathy (AC; also referred to as “ARVC” or “ARVD”). Life-threatening…”
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Exercise: A Risky Subject in Arrhythmogenic Cardiomyopathy by Cerrone, Marina

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Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency by CERRONE, Marina, NOORMAN, Maartje, VAN RIJEN, Harold V, DELMAR, Mario, XIANMING LIN, CHKOURKO, Halina, LIANG, Feng-Xia, VAN DER NAGEL, Roel, HUND, Thomas, BIRCHMEIER, Walter, MOHLER, Peter, VAN VEEN, Toon A

“…The shRNA-mediated loss of expression of the desmosomal protein plakophilin-2 leads to sodium current (I(Na)) dysfunction. Whether pkp2 gene haploinsufficiency…”
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KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia by Deo, Makarand, Ruan, Yanfei, Pandit, Sandeep V., Shah, Kushal, Berenfeld, Omer, Blaufox, Andrew, Cerrone, Marina, Noujaim, Sami F., Denegri, Marco, Jalife, José, Priori, Silvia G.

“…We describe a mutation (E299V) in KCNJ2 , the gene that encodes the strong inward rectifier K ⁺ channel protein (Kir2.1), in an 11-y-old boy. The unique short…”
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Genetically engineered SCN5A mutant pig hearts exhibit conduction defects and arrhythmias by Park, David S, Cerrone, Marina, Morley, Gregory, Vasquez, Carolina, Fowler, Steven, Liu, Nian, Bernstein, Scott A, Liu, Fang-Yu, Zhang, Jie, Rogers, Christopher S, Priori, Silvia G, Chinitz, Larry A, Fishman, Glenn I

“…SCN5A encodes the α subunit of the major cardiac sodium channel Na(V)1.5. Mutations in SCN5A are associated with conduction disease and ventricular…”
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Ca2+ dysregulation in cardiac stromal cells sustains fibro-adipose remodeling in Arrhythmogenic Cardiomyopathy and can be modulated by flecainide by Maione, Angela S, Faris, Pawan, Iengo, Lara, Catto, Valentina, Bisonni, Luca, Lodola, Francesco, Negri, Sharon, Casella, Michela, Guarino, Anna, Polvani, Gianluca, Cerrone, Marina, Tondo, Claudio, Pompilio, Giulio, Sommariva, Elena, Moccia, Francesco

“…Abstract Background Cardiac mesenchymal stromal cells (C-MSC) were recently shown to differentiate into adipocytes and myofibroblasts to promote the aberrant…”
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Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca2+ regulation by Cerrone, Marina, MD, Napolitano, Carlo, MD, PhD, Priori, Silvia G., MD, PhD

“…In the 8 years since the discovery of the genetic bases of catecholaminergic polymorphic ventricular tachycardia (CPVT), we have witnessed a remarkable…”
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Connexin43 contributes to electrotonic conduction across scar tissue in the intact heart by Mahoney, Vanessa M., Mezzano, Valeria, Mirams, Gary R., Maass, Karen, Li, Zhen, Cerrone, Marina, Vasquez, Carolina, Bapat, Aneesh, Delmar, Mario, Morley, Gregory E.

“…Studies have demonstrated non-myocytes, including fibroblasts, can electrically couple to myocytes in culture. However, evidence demonstrating current can…”
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Pleiotropic Phenotypes Associated With PKP2 Variants by Novelli, Valeria, Malkani, Kabir, Cerrone, Marina

“…Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in cell-cell adhesion. Recently, alterations in the gene have been…”
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Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia by Cerrone, Marina, Noujaim, Sami F, Tolkacheva, Elena G, Talkachou, Arkadzi, OʼConnell, Ryan, Berenfeld, Omer, Anumonwo, Justus, Pandit, Sandeep V, Vikstrom, Karen, Napolitano, Carlo, Priori, Silvia G, Jalife, José

“…Catecholaminergic polymorphic ventricular tachycardia (VT) is a lethal familial disease characterized by bidirectional VT, polymorphic VT, and ventricular…”
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Performance of a Protein Language Model for Variant Annotation in Cardiac Disease by Hochstadt, Aviram, Barbhaiya, Chirag, Aizer, Anthony, Bernstein, Scott, Cerrone, Marina, Garber, Leonid, Holmes, Douglas, Knotts, Robert J, Kushnir, Alex, Martin, Jacob, Park, David, Spinelli, Michael, Yang, Felix, Chinitz, Larry A, Jankelson, Lior

“…Genetic testing is a cornerstone in the assessment of many cardiac diseases. However, variants are frequently classified as variants of unknown significance,…”
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Transcriptomic Coupling of PKP2 With Inflammatory and Immune Pathways Endogenous to Adult Cardiac Myocytes by Pérez-Hernández, Marta, Marrón-Liñares, Grecia M, Schlamp, Florencia, Heguy, Adriana, van Opbergen, Chantal J M, Mezzano, Valeria, Zhang, Mingliang, Liang, Feng-Xia, Cerrone, Marina, Delmar, Mario

“…Plakophilin-2 (PKP2) is classically defined as a component of the desmosome. Besides its role in cell-cell adhesion, PKP2 can modulate transcription through…”
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Risk indicators in long QT syndrome: Does location matter? by Cerrone, Marina, MD

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Bidirectional Ventricular Tachycardia and Fibrillation Elicited in a Knock-In Mouse Model Carrier of a Mutation in the Cardiac Ryanodine Receptor by Cerrone, Marina, Colombi, Barbara, Santoro, Massimo, di Barletta, Marina Raffaele, Scelsi, Mario, Villani, Laura, Napolitano, Carlo, Priori, Silvia G

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease characterized by adrenergically mediated polymorphic ventricular…”
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Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome by SCHWARTZ, Peter J, PRIORI, Silvia G, ZAREBA, Wojciech, ROBINSON, Jennifer L, HALL, W. Jackson, BRINK, Paul A, TOIVONEN, Lauri, EPSTEIN, Andrew E, LI, Cuilan, HU, Dayi, CERRONE, Marina, SPAZZOLINI, Carla, ODERO, Attilio, NAPOLITANO, Carlo, BLOISE, Raffaella, DE FERRARI, Gaetano M, KLERSY, Catherine, MOSS, Arthur J

“…The management of long-QT syndrome (LQTS) patients who continue to have cardiac events (CEs) despite beta-blockers is complex. We assessed the long-term…”
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Up-regulation of the inward rectifier K+ current (IK1) in the mouse heart accelerates and stabilizes rotors by Noujaim, Sami F., Pandit, Sandeep V., Berenfeld, Omer, Vikstrom, Karen, Cerrone, Marina, Mironov, Sergey, Zugermayr, Michelle, Lopatin, Anatoli N., Jalife, José

“…Previous studies have suggested an important role for the inward rectifier K + current ( I K1 ) in stabilizing rotors responsible for ventricular tachycardia…”
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Blockade of the Adenosine 2A Receptor Mitigates the Cardiomyopathy Induced by Loss of Plakophilin-2 Expression by Cerrone, Marina, van Opbergen, Chantal J M, Malkani, Kabir, Irrera, Natasha, Zhang, Mingliang, Van Veen, Toon A B, Cronstein, Bruce, Delmar, Mario

“…Mutations in plakophilin-2 (PKP2) are the most common cause of familial Arrhythmogenic Right Ventricular Cardiomyopathy, a disease characterized by ventricular…”
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Management of Congenital Long-QT Syndrome: Commentary From the Experts by Kaufman, Elizabeth S., Eckhardt, Lee L., Ackerman, Michael J., Aziz, Peter F., Behr, Elijah R., Cerrone, Marina, Chung, Mina K., Cutler, Michael J., Etheridge, Susan P., Krahn, Andrew D., Lubitz, Steven A., Perez, Marco V., Priori, Silvia G., Roberts, Jason D., Roden, Dan M., Schulze-Bahr, Eric, Schwartz, Peter J., Shimizu, Wataru, Shoemaker, M. Benjamin, Sy, Raymond W., Towbin, Jeffrey A., Viskin, Sami, A.M. Wilde, Arthur, Zareba, Wojciech

“…While published guidelines are useful in the care of patients with long-QT syndrome, it can be difficult to decide how to apply the guidelines to individual…”
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ICD shocks and complications in patients with inherited arrhythmia syndromes by Siskin, Matthew, Cerrone, Marina, Shokr, Mohamed, Aizer, Anthony, Barbhaiya, Chirag, Dai, Matthew, Bernstein, Scott, Holmes, Douglas, Knotts, Robert, Park, David S., Spinelli, Michael, Chinitz, Larry A., Jankelson, Lior

“…There is limited information on the long-term outcomes of ICDs in patients with inherited arrhythmia syndromes. Prospective registry study of inherited…”
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Sudden Cardiac Arrest in a Patient With Mitral Valve Prolapse and LMNA and SCN5A Mutations by Mahajan, Asha M., Itan, Yuval, Cerrone, Marina, Horowitz, James, Borneman, Linda, Chinitz, Larry, Jankelson, Lior

“…Bileaflet mitral valve prolapse (Bi-MVP) is associated with increased risk for cardiac arrest. We describe a patient who presented after a cardiac arrest with…”
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