Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]
, 2020 Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro +44 more
core +1 more source
Advanced Science, EarlyView.In vivo experiments suggest that cardiomyocyte hypertrophy is an early manifestation of cardiac pathological changes induced by chronic psychological stress. In vivo and in vitro experiments suggest that the corticosterone‐glucocorticoid receptor‐LAMA5 axis mediates cardiomyocyte hypertrophy induced by chronic psychological stress. The clinical results
Chuanjing Zhang +10 more
wiley +1 more source
Cardiomyopathies in China: A 2018–2019 state-of-the-art review
Chronic Diseases and Translational Medicine, 2020 Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation, hypertrophy, and cardiac arrhythmia. Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac ...
Tian-Rui Hua, Shu-Yang Zhang
doaj
Nanoscale Curvature Regulates YAP/TAZ Nuclear Localization Through Nuclear Deformation and Rupture
Advanced Science, EarlyView.This study uses experiments and biophysical modeling to examine the response and adaptation of cells to nanoscale topography of surfaces. It is shown that cytoskeletal assembly and nuclear localization of transcription regulatory factors such as yes‐associated protein (YAP) and transcriptional coactivator with PDZ‐binding motif (TAZ) can be tuned by ...
Emmet A. Francis +7 more
wiley +1 more source
Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
, 2018 Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe +6 more
core +3 more sources
Genetic Basis and Molecular Biology of Cardiac Arrhythmias in Cardiomyopathies.
Cardiovascular Research, 2020 Cardiac arrhythmias are common, often the first, and sometimes the life-threatening manifestations of hereditary cardiomyopathies. Pathogenic variants in several genes known to cause hereditary cardiac arrhythmias have also been identified in the ...
A. Marian, B. Asatryan, X. Wehrens
semanticscholar +1 more source
Post‐Translational Modifications in Cilia and Ciliopathies
Advanced Science, EarlyView.This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley +1 more source
Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing
Cardiovascular Innovations and Applications, 2017 Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), left ...
Guoliang Wang +4 more
doaj +1 more source
ESC Heart Failure, 2022 Aims Carpal tunnel (CT) syndrome is a recognized red‐flag of cardiac amyloidosis (CA) and increased cardiovascular (CV) morbidity. We designed this study to characterize the CV profile of patients with CT syndrome at the time of first surgery and to ...
Aldostefano Porcari +11 more
doaj +1 more source
Current management of patients with severe acute peripartum cardiomyopathy: practical guidance from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy [PDF]
, 2016 No abstract ...
Arrigo +48 more
core +4 more sources