[HTML][HTML] Molecular mechanisms of schizophrenia: Insights from human genetics

Z Farsi, M Sheng - Current Opinion in Neurobiology, 2023 - Elsevier
Schizophrenia is a debilitating psychiatric disorder that affects millions of people worldwide;
however, its etiology is poorly understood at the molecular and neurobiological levels. A …

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …

Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22

LM Brzustowicz, KA Hodgkinson, EWC Chow… - Science, 2000 - science.org
Schizophrenia is a complex disorder, and there is substantial evidence supporting a genetic
etiology. Despite this, prior attempts to localize susceptibility loci have produced …

CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder

GE Hoffman, J Bendl, G Voloudakis, KS Montgomery… - Scientific data, 2019 - nature.com
Schizophrenia and bipolar disorder are serious mental illnesses that affect more than 2% of
adults. While large-scale genetics studies have identified genomic regions associated with …

Mapping complex disease loci in whole-genome association studies

CS Carlson, MA Eberle, L Kruglyak, DA Nickerson - Nature, 2004 - nature.com
Identification of the genetic polymorphisms that contribute to susceptibility for common
diseases such as type 2 diabetes and schizophrenia will aid in the development of …

A population genetic approach to mapping neurological disorder genes using deep resequencing

RA Myers, F Casals, J Gauthier, FF Hamdan… - PLoS …, 2011 - journals.plos.org
Deep resequencing of functional regions in human genomes is key to identifying potentially
causal rare variants for complex disorders. Here, we present the results from a large-sample …

Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk

Y Huo, S Li, J Liu, X Li, XJ Luo - Nature communications, 2019 - nature.com
Genome-wide association studies (GWASs) have identified over 180 independent
schizophrenia risk loci. Nevertheless, how the risk variants in the reported loci confer …

Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk

P Rajarajan, T Borrman, W Liao, N Schrode, E Flaherty… - Science, 2018 - science.org
INTRODUCTION Chromosomal conformations, topologically associated chromatin domains
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …

[PDF][PDF] Novel findings from CNVs implicate inhibitory and excitatory signaling complexes in schizophrenia

AJ Pocklington, E Rees, JTR Walters, J Han… - Neuron, 2015 - cell.com
We sought to obtain novel insights into schizophrenia pathogenesis by exploiting the
association between the disorder and chromosomal copy number (CNV) burden. We …

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

MJ Gandal, JR Haney, B Wamsley, CX Yap, S Parhami… - Nature, 2022 - nature.com
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …