Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
The Wnt/β-catenin pathway comprises a family of proteins that play critical roles in
embryonic development and adult tissue homeostasis. The deregulation of Wnt/β-catenin …
embryonic development and adult tissue homeostasis. The deregulation of Wnt/β-catenin …
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by
frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden …
frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden …
Insights into genetics and pathophysiology of arrhythmogenic cardiomyopathy
B Gerull, A Brodehl - Current Heart Failure Reports, 2021 - Springer
Abstract Purpose of Review Arrhythmogenic cardiomyopathy (ACM) is a genetic disease
characterized by life-threatening ventricular arrhythmias and sudden cardiac death (SCD) in …
characterized by life-threatening ventricular arrhythmias and sudden cardiac death (SCD) in …
Genetic complexity of sinoatrial node dysfunction
The pacemaker cells of the cardiac sinoatrial node (SAN) are essential for normal cardiac
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …
Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies
A Brodehl, H Ebbinghaus, MA Deutsch… - International journal of …, 2019 - mdpi.com
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) encompasses a group of
conditions characterized by right ventricular fibrofatty infiltration, with a predominant …
conditions characterized by right ventricular fibrofatty infiltration, with a predominant …
Arrhythmogenic cardiomyopathy: pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy
SM van der Voorn, ASJM Te Riele… - Cardiovascular …, 2020 - academic.oup.com
Arrhythmogenic cardiomyopathy (ACM) is a life-threatening cardiac disease caused by
mutations in genes predominantly encoding for desmosomal proteins that lead to alterations …
mutations in genes predominantly encoding for desmosomal proteins that lead to alterations …
Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites
AD Nelson, AM Catalfio, JP Gupta, L Min… - Neuron, 2024 - cell.com
Dysfunction in sodium channels and their ankyrin scaffolding partners have both been
implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In …
implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In …
Knockout of SORBS2 protein disrupts the structural integrity of intercalated disc and manifests features of arrhythmogenic cardiomyopathy
Background Sorbs2b (sorbin and SH3 domain‐containing 2b) was recently identified as a
cardiomyopathy gene from a zebrafish mutagenesis screen. However, cardiac functions of …
cardiomyopathy gene from a zebrafish mutagenesis screen. However, cardiac functions of …
The role of β-catenin in cardiac diseases
B Ni, M Sun, J Zhao, J Wang, Z Cao - Frontiers in Pharmacology, 2023 - frontiersin.org
The Wnt/β-catenin signaling pathway is a classical Wnt pathway that regulates the stability
and nuclear localization of β-catenin and plays an important role in adult heart development …
and nuclear localization of β-catenin and plays an important role in adult heart development …