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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   +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

Journal of the American Heart Association, 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   +2 more
exaly   +3 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

Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions. [PDF]

Pediatr Dermatol
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Hamzehlou S, Mortlock RD, Echeandia-Francis C, Zhou J, Xing C, Agim NG, Choate KA, Glass DA.   +7 more
europepmc   +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

Genotype–phenotype correlations in DSP-associated arrhythmogenic cardiomyopathy that initially presents as myocarditis: a case report and literature review [PDF]

Frontiers in Cardiovascular Medicine
ObjectiveThis case report summarizes the clinical characteristics and molecular genetic features of arrhythmogenic cardiomyopathy (ACM) caused by mutations in DSP that initially presented as myocarditis.MethodsThe clinical manifestations, genetic ...
Xinyu Lin, Dequan Su, Shubin Lin, Fang Yang   +3 more
doaj   +2 more sources

A cardiomyopathy to remember: a case report of desmoplakin cardiomyopathy [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: Arrhythmogenic cardiomyopathies are an under-investigated common cause for myocardial infarction with no obstructive coronary artery disease.
Tarek Mahdy, Salaheldin Agamy, Mahmoud Khedr, George Doos, Mohamed Mansour, Mubarak Ahamed   +5 more
doaj   +2 more sources

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 ...
Katsunori Kobayashi, Eri Segi-Nishida
exaly   +3 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