Results 1 to 10 of about 10,499 (199)

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   +4 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
doaj   +2 more sources

Cyclodextrin Counteracts Coxsackievirus-Induced Cardiac Damage by Protecting Desmosome Integrity and Suppressing Proinflammatory Cytokine Expression [PDF]

Microorganisms
Nuclear factor of activated T cells 5 (NFAT5), an osmosensitive transcription factor, has been shown to protect against coxsackievirus B3 (CVB3)-induced myocarditis but is susceptible to cleavage by viral proteases.
Guangze Zhao, Huifang M. Zhang, Grace J. Zhang, Wenli Yang, Christoph Küper, Bruce M. McManus, Decheng Yang   +6 more
doaj   +2 more sources

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults.
Wolfgang Poller, Jan Haas, Karin Klingel, Jirko Kühnisch, Martina Gast, Ziya Kaya, Felicitas Escher, Elham Kayvanpour, Franziska Degener, Bernd Opgen‐Rhein, Felix Berger, Hans‐Christian Mochmann, Carsten Skurk, Bettina Heidecker, Heinz‐Peter Schultheiss, Lorenzo Monserrat, Benjamin Meder, Ulf Landmesser, Sabine Klaassen   +18 more
doaj   +2 more sources

Actomyosin forces trigger a conformational change in desmoplakin within desmosomes [PDF]

Nature Communications
Desmosomes are essential cell-cell adhesion organelles that enable tension-prone tissues, like the skin and heart, to withstand mechanical stress.
Yinchen Dong, Ahmed Elgerbi, Bin Xie, Yerin Han, Adam V. Kwiatkowski, John S. Choy, Sanjeevi Sivasankar   +6 more
doaj   +2 more sources

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report [PDF]

Frontiers in Medicine
Palmoplantar keratoderma (PPK) represents a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. Epidermolytic palmoplantar keratoderma (EPPK) is typically caused by variations in KRT9 or KRT1 genes.
Chunli Lin, Huaqing Chen, Shuqin Lai, Shan Huang, Zimeng Guo, Lang Xie, Wei Zheng, Jingfa Lu, Zhaolin Zeng, Chunlei Wan, Longnian Li   +10 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
doaj   +2 more sources

Desmoplakin Cardiomyopathy Presenting as Recurrent Myocarditis Treated With Immunosuppression. [PDF]

JACC Case Rep
Abdaem J, Leader N, Ballantyne BA, Shaw J, Coad S, White JA, Kiamanesh O.   +6 more
europepmc   +2 more sources

Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia [PDF]

, 2018
Sabina Rosset, Argelia Medeiros‐Domingo, Angeliki Asimaki, Denis Graf, Jacques Metzger, Juerg Schwitter, Samuel Rotman, Étienne Pruvot   +7 more
openalex   +5 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
doaj   +1 more source