p38 MAPK pathway in the heart: new insights in health and disease
R Romero-Becerra, AM Santamans… - International Journal of …, 2020 - mdpi.com
The p38 mitogen-activated kinase (MAPK) family controls cell adaptation to stress stimuli.
p38 function has been studied in depth in relation to cardiac development and function. The …
p38 function has been studied in depth in relation to cardiac development and function. The …
Inflammation and immune response in arrhythmogenic cardiomyopathy: state-of-the-art review
B Asatryan, A Asimaki, AP Landstrom, MY Khanji… - Circulation, 2021 - Am Heart Assoc
Arrhythmogenic cardiomyopathy (ACM) is a primary disease of the myocardium,
predominantly caused by genetic defects in proteins of the cardiac intercalated disc …
predominantly caused by genetic defects in proteins of the cardiac intercalated disc …
Arrhythmias as presentation of genetic cardiomyopathy
J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …
The role of junctophilin proteins in cellular function
SE Lehnart, XHT Wehrens - Physiological reviews, 2022 - journals.physiology.org
Junctophilins (JPHs) comprise a family of structural proteins that connect the plasma
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …
Frequency, penetrance, and variable expressivity of dilated cardiomyopathy–associated putative pathogenic gene variants in UK Biobank participants
Background: There is a paucity of data regarding the phenotype of dilated cardiomyopathy
(DCM) gene variants in the general population. We aimed to determine the frequency and …
(DCM) gene variants in the general population. We aimed to determine the frequency and …
Myocardial inflammation as a manifestation of genetic cardiomyopathies: from bedside to the bench
G Peretto, E Sommariva, C Di Resta, M Rabino… - Biomolecules, 2023 - mdpi.com
Over recent years, preclinical and clinical evidence has implicated myocardial inflammation
(M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M …
(M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M …
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation–contraction coupling to mutations that cause inherited arrhythmia
JA Keefe, OM Moore, KS Ho, XHT Wehrens - Archives of toxicology, 2023 - Springer
Abstract Calcium (Ca2+) ions are a key second messenger involved in the rhythmic
excitation and contraction of cardiomyocytes throughout the heart. Proper function of Ca2+ …
excitation and contraction of cardiomyocytes throughout the heart. Proper function of Ca2+ …
Molecular genetic basis of hypertrophic cardiomyopathy
AJ Marian - Circulation research, 2021 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium characterized
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …
Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic …
L Rouhi, SM Cheedipudi, SN Chen, S Fan… - Cardiovascular …, 2021 - academic.oup.com
Aims Arrhythmogenic cardiomyopathy (ACM) encompasses a genetically heterogeneous
group of myocardial diseases whose manifestations are sudden cardiac death, cardiac …
group of myocardial diseases whose manifestations are sudden cardiac death, cardiac …
State of the art review on genetics and precision medicine in arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …