Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell, Journal Year: 2020, Volume and Issue: 180(3), P. 568 - 584.e23

Published: Jan. 23, 2020

Language: Английский

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Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Nature, Journal Year: 2022, Volume and Issue: 604(7906), P. 502 - 508

Published: April 8, 2022

Language: Английский

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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Nature Genetics, Journal Year: 2021, Volume and Issue: 53(6), P. 817 - 829

Published: May 17, 2021

Language: Английский

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Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice

Cell, Journal Year: 2019, Volume and Issue: 177(6), P. 1600 - 1618.e17

Published: May 1, 2019

Language: Английский

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Comprehensive functional genomic resource and integrative model for the human brain

Science, Journal Year: 2018, Volume and Issue: 362(6420)

Published: Dec. 13, 2018

Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource adult brain across 1866 individuals. The contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles many cell types; quantitative-trait loci (QTLs); further QTLs associated with chromatin, splicing, cell-type proportions. Integration shows that varying proportions largely account cross-population variation (with >88% reconstruction accuracy). It also allows building gene regulatory network, linking genome-wide association study variants to genes (e.g., 321 schizophrenia). We embed this network into an interpretable deep-learning model, which improves disease prediction by ~6-fold versus polygenic scores identifies key pathways disorders.

Language: Английский

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Transcriptome-scale spatial gene expression in the human dorsolateral prefrontal cortex

Nature Neuroscience, Journal Year: 2021, Volume and Issue: 24(3), P. 425 - 436

Published: Feb. 8, 2021

Language: Английский

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Dopamine and glutamate in schizophrenia: biology, symptoms and treatment

World Psychiatry, Journal Year: 2020, Volume and Issue: 19(1), P. 15 - 33

Published: Jan. 10, 2020

Glutamate and dopamine systems play distinct roles in terms of neuronal signalling, yet both have been proposed to contribute significantly the pathophysiology schizophrenia. In this paper we assess research that has implicated aetiology disorder. We examine evidence from post‐mortem, preclinical, pharmacological vivo neuroimaging studies. Pharmacological preclinical studies implicate systems, imaging system consistently identified elevated striatal synthesis release capacity Imaging glutamate other aspects on produced less consistent findings, potentially due methodological limitations heterogeneity Converging indicates genetic environmental risk factors for schizophrenia underlie disruption glutamatergic dopaminergic function. However, while influences may directly dysfunction, few variants system, indicating aberrant signalling is likely be predominantly factors. discuss neural circuits through which two interact, how their cause psychotic symptoms. also mechanisms existing treatments operate, recent highlighted opportunities development novel therapies. Finally, consider outstanding questions field, including what remains unknown regarding nature function schizophrenia, needs achieved make progress developing new treatments.

Language: Английский

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The roles of perineuronal nets and the perinodal extracellular matrix in neuronal function

Nature reviews. Neuroscience, Journal Year: 2019, Volume and Issue: 20(8), P. 451 - 465

Published: July 1, 2019

Language: Английский

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Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders

Cell, Journal Year: 2019, Volume and Issue: 177(1), P. 162 - 183

Published: March 1, 2019

Language: Английский

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Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Nature Genetics, Journal Year: 2023, Volume and Issue: 55(2), P. 198 - 208

Published: Jan. 26, 2023

Language: Английский

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