European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …
AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022 - academic.oup.com
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …
Spatially resolved multiomics of human cardiac niches
The function of a cell is defined by its intrinsic characteristics and its niche: the tissue
microenvironment in which it dwells. Here we combine single-cell and spatial …
microenvironment in which it dwells. Here we combine single-cell and spatial …
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
Concomitant genetic ablation of L-type Cav1.3 (α1D) and T-type Cav3.1 (α1G) Ca2+ channels disrupts heart automaticity
M Baudot, E Torre, I Bidaud, J Louradour… - Scientific reports, 2020 - nature.com
Cardiac automaticity is set by pacemaker activity of the sinus node (SAN). In addition to the
ubiquitously expressed cardiac voltage-gated L-type Cav1. 2 Ca2+ channel isoform …
ubiquitously expressed cardiac voltage-gated L-type Cav1. 2 Ca2+ channel isoform …
Pharmacologic approach to sinoatrial node dysfunction
P Mesirca, VV Fedorov, TJ Hund… - Annual review of …, 2021 - annualreviews.org
The spontaneous activity of the sinoatrial node initiates the heartbeat. Sino-atrial node
dysfunction (SND) and sick sinoatrial (sick sinus) syndrome are caused by the heart's …
dysfunction (SND) and sick sinoatrial (sick sinus) syndrome are caused by the heart's …
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 …
Pathophysiology of Cav1.3 L-type calcium channels in the heart
Ca2+ plays a crucial role in excitation-contraction coupling in cardiac myocytes.
Dysfunctional Ca2+ regulation alters the force of contraction and causes cardiac …
Dysfunctional Ca2+ regulation alters the force of contraction and causes cardiac …
Calcium signaling in neurodevelopment and pathophysiology of autism spectrum disorders
A Pourtavakoli, S Ghafouri-Fard - Molecular Biology Reports, 2022 - Springer
Background Autism spectrum disorder (ASD) covers a group of neurodevelopmental
disorders with complex genetic background. Several genetic mutations, epigenetic …
disorders with complex genetic background. Several genetic mutations, epigenetic …
Genetics of sinoatrial node function and heart rate disorders
LE van der Maarel, AV Postma… - Disease models & …, 2023 - journals.biologists.com
The sinoatrial node (SAN) is the primary pacemaker of the mammalian heart, initiating its
electrical activation and ensuring that the heart's functional cardiac output meets …
electrical activation and ensuring that the heart's functional cardiac output meets …
Channelopathies of voltage-gated L-type Cav1.3/α1D and T-type Cav3.1/α1G Ca2+ channels in dysfunction of heart automaticity
AG Torrente, P Mesirca, I Bidaud… - Pflügers Archiv-European …, 2020 - Springer
The heart automaticity is a fundamental physiological function in vertebrates. The cardiac
impulse is generated in the sinus node by a specialized population of spontaneously active …
impulse is generated in the sinus node by a specialized population of spontaneously active …