Genetics and genomics of autism spectrum disorder: embracing complexity

S De Rubeis, JD Buxbaum - Human molecular genetics, 2015 - academic.oup.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …

Cardiac mechano-gated ion channels and arrhythmias

R Peyronnet, JM Nerbonne, P Kohl - Circulation research, 2016 - ahajournals.org
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 …

Electrophysiological and molecular mechanisms of paroxysmal atrial fibrillation

S Nattel, D Dobrev - Nature Reviews Cardiology, 2016 - nature.com
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 …

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 …

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 …

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 …

[HTML][HTML] Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions

J Joshi, C Albers, N Smole, S Guo, SA Smith - Frontiers in Physiology, 2024 - frontiersin.org
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 …

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 …

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 …

[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 …