Results 1 to 10 of about 10,048 (237)

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Chinese Medical Journal, 2021
. Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found
Zhong-Yu Yuan, Li-Ting Cheng, Ze-Feng Wang, Yong-Quan Wu, Ning-Ning Wang   +4 more
doaj   +5 more sources

Structure of the Intermediate Filament-Binding Region of Desmoplakin. [PDF]

PLoS ONE, 2016
Desmoplakin (DP) is a cytoskeletal linker protein that connects the desmosomal cadherin/plakoglobin/plakophilin complex to intermediate filaments (IFs).
Hyunook Kang, Thomas M Weiss, Injin Bang, William I Weis, Hee-Jung Choi   +4 more
doaj   +6 more sources

Desmoplakin and features of desmoplakin cardiomyopathy

Российский кардиологический журнал, 2023
Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects.
R. P. Myasnikov, N. N. Kuzina, D. A. Nefedova, A. V. Kiseleva, O. V. Kulikova, A. N. Meshkov, M. M. Kudryavtseva, E. A. Mershina, M. g. Divashuk, E. V. Ryzhkova, M. S. Kharlap, O. M. Drapkina   +11 more
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Sinus arrest in a p.Arg160X-DSP-positive patient without evidence of desmoplakin-mediated cardiomyopathy: a case report [PDF]

Frontiers in Cardiovascular Medicine, 2023
BackgroundPathogenic/Likely pathogenic variants in DSP-encoded desmoplakin are strongly associated with arrhythmogenic cardiomyopathy (ACM). However, their contribution towards sinus node dysfunction has not been well-delineated.Case summaryA 74-year-old
Nicholas Y. Tan, John R. Giudicessi, Jason R. Harvey, Samuel J. Asirvatham, Konstantinos C. Siontis   +4 more
doaj   +2 more sources

Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease [PDF]

Cardiogenetics, 2021
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led ...
Joanne Simpson, Joan Anusas, Denise Oxnard, Sylvia Wright, Ruth McGowan, Caroline Coats   +5 more
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Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study [PDF]

, 2012
Anecdotal observations suggest that sub-clinical electrophysiological manifestations of arrhythmogenic right ventricular cardiomyopathy (ARVC) develop before detectable structural changes ensue on cardiac imaging. To test this hypothesis, we investigated
Ahmed, AK, Asimaki, A, Chaubey, S, Ciaccio, EJ, Finlay, M, Gomes, J, Lambiase, PD, McKenna, WJ, Nobles, M, Quarta, G, Saffitz, JE, Syrris, P, Tinker, A   +12 more
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Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases [PDF]

Scientific Reports
Arrhythmogenic cardiomyopathy (AC) is a common cause of sudden cardiac arrest and death in young adults. It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carboxyterminus tail ...
Cedric Badowski, Paula Benny, Chandra S. Verma, E. Birgitte Lane   +3 more
doaj   +2 more sources

The Diagnostic and Prognostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy [PDF]

JACC: Advances
Background: Electrocardiographic findings in arrhythmogenic left ventricular cardiomyopathy (ALVC) have been limited to small studies. Objectives: The authors aimed to analyze the electrocardiogram (ECG) characteristics of ALVC, to correlate ECG with ...
Leonardo Calò, MD, Cinzia Crescenzi, MD, Andrea Di Marco, MD, PhD, Francesca Fanisio, MD, Fabiana Romeo, MD, Alessio Gargaro, MSc, Annamaria Martino, MD, PhD, Chiara Cappelletto, MD, Marco Merlo, MD, Mattia Targetti, MD, Elisabetta Toso, MD, Federica Toto, MD, Maria Beatrice Musumeci, MD, Giacomo Tini, MD, Michele Ciabatti, MD, Matteo Stefanini, MD, Stefano Canestrelli, MD, Elisa Fedele, MD, Chiara Lanzillo, MD, PhD, Armando Fusco, MD, PhD, Federica Carla Sangiuolo, MD, PhD, Cinzia Radesich, MD, Maria Perotto, MD, Maurizio Pieroni, MD, Ruggiero Mango, MD, PhD, Alessio Gasperetti, MD, PhD, Camillo Autore, MD, Michela Casella, MD, PhD, Antonio Dello Russo, MD, PhD, Davide Stolfo, MD, PhD, Mikael Laredo, MD, PhD, Estelle Gandjbakhch, MD, PhD, Maddalena Graziosi, MD, PhD, Elena Biagini, MD, PhD, Costantina Catalano, MD, Ludovica Barile, MD, Fabrizio Drago, MD, Marianna Cicenia, MD, Anwar Baban, MD, PhD, Gemma Pelargonio, MD, PhD, Maria Lucia Narducci, MD, Federica Re, MD, Giovanni Peretto, MD, Elena Paiotti, MD, Carles Diez Lopez, MD, Iacopo Olivotto, MD, Fiorenzo Gaita, MD, Gianfranco Sinagra, MD, Giuseppe Novelli, MD, PhD   +48 more
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Role of desmoplakin in supporting neuronal activity, neurogenic processes, and emotional-related behaviors in the dentate gyrus

Frontiers in Neuroscience
Desmoplakin (Dsp) is a component of desmosomal cell–cell junctions that interacts with the cadherin complex and cytoskeletal intermediate filaments. In addition to its function as an adhesion component, Dsp is involved in various biological processes ...
Keisuke Otsubo, Naoko Sakashita, Yuki Nishimoto, Yo Sato, Takehisa Tsutsui, Katsunori Kobayashi, Kanzo Suzuki, Eri Segi-Nishida   +7 more
doaj   +2 more sources

Naxos Disease and Related Cardio-Cutaneous Syndromes [PDF]

JACC: Advances
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin.
Alexandros Protonotarios, MD, Angeliki Asimaki, Ph.D, Cristina Basso, MD, Zafeirenia Xylouri, MD, Emanuele Monda, MD, Ioannis Protonotarios, MD, Giulia Crisci, MD, Dominic JR. Abrahms, MMBS, MD, MBA, Aris Anastasakis, MD, Loizos Antoniades, MD, Athanasios Bakalakos, MD, Andreina Carbone, MD, Aman S. Coonar, MD, Juan Ramon Gimeno, MD, George Lazaros, MD, Stamatis Lerakis, MD, Luisa Mestroni, MD, George Papadopoulos, MD, Leandro Pecchia, MD, Francesca Romana Prandi, MD, Petros Syrris, MD, Julia Cadrin-Turigny, MD, Anargyros Vasilakis, MSc, Jeffrey E. Saffitz, MD, PhD, Stamatios Gaetano Thiene, MD, Perry M. Elliott, MD, Juan Pablo Kaski, MD, William J. McKenna, MD, Eduardo Bossone, MD, Giuseppe Limongelli, MD, Adalena Tsatsopoulou, MD   +30 more
doaj   +2 more sources