Inherited cardiac arrhythmias

PJ Schwartz, MJ Ackerman, C Antzelevitch… - Nature reviews Disease …, 2020 - nature.com
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice

G Sharon, NJ Cruz, DW Kang, MJ Gandal, B Wang… - Cell, 2019 - cell.com
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …

An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome

A Adler, V Novelli, AS Amin, E Abiusi, M Care… - Circulation, 2020 - Am Heart Assoc
Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …

An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity

E Masini, E Loi, AF Vega-Benedetti, M Carta… - International journal of …, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Assembly of functionally integrated human forebrain spheroids

F Birey, J Andersen, CD Makinson, S Islam, W Wei… - Nature, 2017 - nature.com
The development of the nervous system involves a coordinated succession of events
including the migration of GABAergic (γ-aminobutyric-acid-releasing) neurons from ventral …

Phase separation as a missing mechanism for interpretation of disease mutations

B Tsang, I Pritišanac, SW Scherer, AM Moses… - Cell, 2020 - cell.com
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs),
which lack a stable folded structure. These mutations, while prevalent in disease, are …

Calcium channels, synaptic plasticity, and neuropsychiatric disease

E Nanou, WA Catterall - Neuron, 2018 - cell.com
Voltage-gated calcium channels couple depolarization of the cell-surface membrane to entry
of calcium, which triggers secretion, contraction, neurotransmission, gene expression, and …

Computational models in cardiology

SA Niederer, J Lumens, NA Trayanova - Nature reviews cardiology, 2019 - nature.com
The treatment of individual patients in cardiology practice increasingly relies on advanced
imaging, genetic screening and devices. As the amount of imaging and other diagnostic …