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Genetics and genomics of autism spectrum disorder: embracing complexity
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …
impairments in social communication and social interaction and the presence of repetitive …
Cardiac mechano-gated ion channels and arrhythmias
Mechanical forces will have been omnipresent since the origin of life, and living organisms
have evolved mechanisms to sense, interpret, and respond to mechanical stimuli. The …
have evolved mechanisms to sense, interpret, and respond to mechanical stimuli. The …
Electrophysiological and molecular mechanisms of paroxysmal atrial fibrillation
Atrial fibrillation (AF) is an extremely prevalent arrhythmia that presents a wide range of
therapeutic challenges. AF usually begins in a self-terminating paroxysmal form (pAF). With …
therapeutic challenges. AF usually begins in a self-terminating paroxysmal form (pAF). With …
βII spectrin (SPTBN1): biological function and clinical potential in cancer and other diseases
P Yang, Y Yang, P Sun, Y Tian, F Gao… - … journal of biological …, 2021 - pmc.ncbi.nlm.nih.gov
βII spectrin, the most common isoform of non-erythrocyte spectrin, is a cytoskeleton protein
present in all nucleated cells. Interestingly, βII spectrin is essential for the development of …
present in all nucleated cells. Interestingly, βII spectrin is essential for the development of …
Murine electrophysiological models of cardiac arrhythmogenesis
CLH Huang - Physiological reviews, 2017 - journals.physiology.org
Cardiac arrhythmias can follow disruption of the normal cellular electrophysiological
processes underlying excitable activity and their tissue propagation as coherent wavefronts …
processes underlying excitable activity and their tissue propagation as coherent wavefronts …
Beta SARS-CoV-2 variant and BNT162b2 vaccine effectiveness in long-term care facilities in France
B Lefèvre, L Tondeur, Y Madec, R Grant… - The Lancet Healthy …, 2021 - thelancet.com
Variants of SARS-CoV-2 have emerged that are more transmissible than the original virus or
that exhibit some properties of immune escape, or both. The beta (B. 1.351) variant has …
that exhibit some properties of immune escape, or both. The beta (B. 1.351) variant has …
[HTML][HTML] Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions
Ion channels and cytoskeletal proteins in the cardiac dyad play a critical role in maintaining
excitation-contraction (EC) coupling and provide cardiac homeostasis. Functional changes …
excitation-contraction (EC) coupling and provide cardiac homeostasis. Functional changes …
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High …
LA Swayne, NP Murphy, S Asuri, L Chen… - Circulation …, 2017 - ahajournals.org
Background—Long QT syndrome confers susceptibility to ventricular arrhythmia,
predisposing to syncope, seizures, and sudden death. While rare globally, long QT …
predisposing to syncope, seizures, and sudden death. While rare globally, long QT …
Tumor cell SPTBN1 inhibits M2 polarization of macrophages by suppressing CXCL1 expression
H Wu, N Jiang, J Li, Q **, J **, J Guo… - Journal of Cellular …, 2024 - Wiley Online Library
Tumor‐associated macrophages (TAMs) are the most abundant immune cells in the tumor
microenvironment, and the M2‐type TAMs can promote tumor growth, invasion and …
microenvironment, and the M2‐type TAMs can promote tumor growth, invasion and …
[HTML][HTML] Loss of SPTBN1 suppresses autophagy via SETD7-mediated YAP methylation in hepatocellular carcinoma initiation and development
S Chen, H Wu, Z Wang, M Jia, J Guo, J **, X Li… - Cellular and Molecular …, 2022 - Elsevier
Background & Aims Loss of Spectrin beta, non-erythrocytic 1 (SPTBN1) plays an important
role in the carcinogenesis of hepatocellular carcinoma (HCC); however, the mechanisms …
role in the carcinogenesis of hepatocellular carcinoma (HCC); however, the mechanisms …