[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 …

Copy-number variations associated with neuropsychiatric conditions

EH Cook Jr, SW Scherer - Nature, 2008 - nature.com
Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to
genetic alterations, but identifying the genes responsible has proved challenging …

Increased synapse elimination by microglia in schizophrenia patient-derived models of synaptic pruning

CM Sellgren, J Gracias, B Watmuff, JD Biag… - Nature …, 2019 - nature.com
Synapse density is reduced in postmortem cortical tissue from schizophrenia patients, which
is suggestive of increased synapse elimination. Using a reprogrammed in vitro model of …

The contribution of de novo coding mutations to autism spectrum disorder

I Iossifov, BJ O'roak, SJ Sanders, M Ronemus… - Nature, 2014 - nature.com
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

I Voineagu, X Wang, P Johnston, JK Lowe, Y Tian… - Nature, 2011 - nature.com
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is …

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families

AE Timms, MO Dorschner, J Wechsler, KY Choi… - JAMA …, 2013 - jamanetwork.com
Importance Schizophrenia is a complex genetic disorder demonstrating considerable
heritability. Genetic studies have implicated many different genes and pathways, but much of …

Convergent evidence for impaired AKT1-GSK3β signaling in schizophrenia

ES Emamian, D Hall, MJ Birnbaum, M Karayiorgou… - Nature …, 2004 - nature.com
AKT-GSK3β signaling is a target of lithium and as such has been implicated in the
pathogenesis of mood disorders. Here, we provide evidence that this signaling pathway also …

Control of cortical GABA circuitry development by Nrg1 and ErbB4 signalling

P Fazzari, AV Paternain, M Valiente, R Pla, R Luján… - Nature, 2010 - nature.com
Schizophrenia is a complex disorder that interferes with the function of several brain systems
required for cognition and normal social behaviour. Although the most notable clinical …

[PDF][PDF] Molecular substrates of altered axonal growth and brain connectivity in a mouse model of schizophrenia

J Mukai, M Tamura, K Fénelon, AM Rosen… - Neuron, 2015 - cell.com
Summary 22q11. 2 deletion carriers show specific cognitive deficits, and∼ 30% of them
develop schizophrenia. One of the disrupted genes is ZDHHC8, which encodes for a …

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

E Rees, J Han, J Morgan, N Carrera… - Nature …, 2020 - nature.com
Schizophrenia is a highly polygenic disorder with important contributions from both common
and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a …