Results 1 to 10 of about 6,762 (204)

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

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.
Lorenzo Monserrat, Sabine Klaassen
exaly   +4 more sources

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   +3 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   +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

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

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 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

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

Paraneoplastic Pemphigus Autoantibodies Against C-terminus of Desmoplakin Induced Acantholysis In Vitro and In Vivo

Frontiers in Immunology, 2022
Paraneoplastic pemphigus (PNP) is an autoimmune bullous disease associated with underlying neoplasms and characterized by antibodies against desmoglein 3 (Dsg 3) and plakins.
Xue Wang, Xue Wang, Xue Wang, Xue Wang, Rui Wang, Rui Wang, Rui Wang, Dingfang Bu, Leyi Wang, Leyi Wang, Leyi Wang, Yuexin Zhang, Yuexin Zhang, Yuexin Zhang, Yuan Chang, Yuan Chang, Yuan Chang, Chenyang Zhang, Chenyang Zhang, Xixue Chen, Xixue Chen, Xixue Chen, Xuejun Zhu, Xuejun Zhu, Xuejun Zhu, Zhi Liu, Mingyue Wang, Mingyue Wang, Mingyue Wang   +28 more
doaj   +1 more source

Humanized Dsp ACM Mouse Model Displays Stress-Induced Cardiac Electrical and Structural Phenotypes

Cells, 2022
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibro-fatty infiltration with an increased propensity for ventricular arrhythmias and sudden death. Genetic variants in desmosomal genes are associated with ACM.
Tyler L. Stevens, Heather R. Manring, Michael J. Wallace, Aaron Argall, Trevor Dew, Peter Papaioannou, Steve Antwi-Boasiako, Xianyao Xu, Stuart G. Campbell, Fadi G. Akar, Maegen A. Borzok, Thomas J. Hund, Peter J. Mohler, Sara N. Koenig, Mona El Refaey   +14 more
doaj   +1 more source