Low-level brain somatic mutations are implicated in schizophrenia

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

(2020) Daniel P. Howrigan et al.   NATURE NEUROSCIENCE

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

(2020) Elliott Rees et al.   NATURE NEUROSCIENCE

Sequencing artifacts derived from a library preparation method using enzymatic fragmentation

(2020) Norio Tanaka et al.   PLoS One

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

(2020) Byung Woo Kim et al.   Acta Neuropathologica Communications

Long genes are more frequently affected by somatic mutations and show reduced expression in Alzheimer's disease: Implications for disease etiology

(2020) Sourena Soheili‐Nezhad et al.   Alzheimers & Dementia

Assessment of somatic single-nucleotide variation in brain tissue of cases with schizophrenia

(2019) John F. Fullard et al.   Translational Psychiatry

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

(2019) Laura M. Huckins et al.   NATURE GENETICS

Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease

(2019) Min Zhu et al.   CELL

The Effects of Acupuncture on Glutamatergic Neurotransmission in Depression, Anxiety, Schizophrenia, and Alzheimer's Disease: A Review of the Literature

(2019) Cheng-Hao Tu et al.   Frontiers in Psychiatry

Regional Heterogeneity in Gene Expression, Regulation, and Coherence in the Frontal Cortex and Hippocampus across Development and Schizophrenia

(2019) Leonardo Collado-Torres et al.   NEURON

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

(2019) Sara Baldassari et al.   ACTA NEUROPATHOLOGICA

A GluN2B mutation identified in Autism prevents NMDA receptor trafficking and interferes with dendrite growth

(2019) Michael P. Sceniak et al.   JOURNAL OF CELL SCIENCE

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

(2019) Yanina Ivashko-Pachima et al.   MOLECULAR PSYCHIATRY

Sharing of heteroplasmies between human liver lobes varies across the mtDNA genome

(2019) Alexander Hübner et al.   Scientific Reports

Examining the association between genetic liability for schizophrenia and psychotic symptoms in Alzheimer’s disease

(2019) Byron Creese et al.   Translational Psychiatry

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis

(2019) Liuxing Feng et al.   Journal of Oncology

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

(2019) Natalie Ellis et al.   BIOLOGICAL PSYCHIATRY

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

(2019) Elisabeth Luisa Germer et al.   Frontiers in Neurology

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

(2018) Melodie R. Winawer et al.   ANNALS OF NEUROLOGY

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

(2018) Théo Ribierre et al.   JOURNAL OF CLINICAL INVESTIGATION

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination

(2018) Sang Min Park et al.   NEURON

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

(2018) Laura Fedele et al.   Nature Communications

The landscape of epilepsy-related GATOR1 variants

(2018) Sara Baldassari et al.   GENETICS IN MEDICINE

Frequency and signature of somatic variants in 1461 human brain exomes

(2018) Wei Wei et al.   GENETICS IN MEDICINE

BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors

(2018) Hyun Yong Koh et al.   NATURE MEDICINE

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

(2018) Itaru Kushima et al.   Cell Reports

Sources of erroneous sequences and artifact chimeric reads in next generation sequencing of genomic DNA from formalin-fixed paraffin-embedded samples

(2018) Simon Haile et al.   NUCLEIC ACIDS RESEARCH

A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density

(2017) Shuxi Liu et al.   JOURNAL OF NEUROSCIENCE

The influence of the glutamatergic system on cognition in schizophrenia: A systematic review

(2017) Elizabeth H.X. Thomas et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

Alterations in Properties of Glutamatergic Transmission in the Temporal Cortex and Hippocampus Following Pilocarpine-Induced Acute Seizures in Wistar Rats

(2017) Dmitry V. Amakhin et al.   Frontiers in Cellular Neuroscience

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

(2017) Russell L. McLaughlin et al.   Nature Communications

Synaptic Regulation of a Thalamocortical Circuit Controls Depression-Related Behavior

(2017) Oliver H. Miller et al.   Cell Reports

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

(2016) Huwenbo Shi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

(2016) Sarah Weckhuysen et al.   EPILEPSIA

Gene expression elucidates functional impact of polygenic risk for schizophrenia

(2016) Menachem Fromer et al.   NATURE NEUROSCIENCE

Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis

(2016) Giles E. Hardingham et al.   NATURE REVIEWS NEUROSCIENCE

NMDA receptor subunit mutations in neurodevelopmental disorders

(2015) Nail Burnashev et al.   CURRENT OPINION IN PHARMACOLOGY

The NMDA receptor ‘glycine modulatory site’ in schizophrenia: d-serine, glycine, and beyond

(2015) Darrick T Balu et al.   CURRENT OPINION IN PHARMACOLOGY

Phosphorylation of Tyrosine 1070 at the GluN2B Subunit Is Regulated by Synaptic Activity and Critical for Surface Expression ofN-Methyl-d-aspartate (NMDA) Receptors

(2015) Wen Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DISEASES: Text mining and data integration of disease–gene associations

(2015) Sune Pletscher-Frankild et al.   METHODS

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

The PsychENCODE project

(2015) Schahram Akbarian et al.   NATURE NEUROSCIENCE

Spine pruning drives antipsychotic-sensitive locomotion via circuit control of striatal dopamine

(2015) Il Hwan Kim et al.   NATURE NEUROSCIENCE

PolySearch2: a significantly improved text-mining system for discovering associations between human diseases, genes, drugs, metabolites, toxins and more

(2015) Yifeng Liu et al.   NUCLEIC ACIDS RESEARCH

Common variants in SLC1A2 and schizophrenia: Association and cognitive function in patients with schizophrenia and healthy individuals

(2015) Bao Zhang et al.   SCHIZOPHRENIA RESEARCH

Translational Control in Synaptic Plasticity and Cognitive Dysfunction

(2014) Shelly A. Buffington et al.   Annual Review of Neuroscience

The Glutamatergic Aspects of Schizophrenia Molecular Pathophysiology: Role of the Postsynaptic Density, and Implications for Treatment

(2014) Felice Iasevoli et al.   Current Neuropharmacology

Surface dynamics of GluN2B-NMDA receptors controls plasticity of maturing glutamate synapses

(2014) J. P. Dupuis et al.   EMBO JOURNAL

Association of rare variation in the glutamate receptor gene SLC1A2 with susceptibility to bipolar disorder and schizophrenia

(2014) Alessia Fiorentino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Genetic Dys-regulation of Astrocytic Glutamate Transporter EAAT2 and its Implications in Neurological Disorders and Manganese Toxicity

(2014) Pratap Karki et al.   NEUROCHEMICAL RESEARCH

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Autophagy has a key role in the pathophysiology of schizophrenia

(2013) A Merenlender-Wagner et al.   MOLECULAR PSYCHIATRY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

(2013) Maura Costello et al.   NUCLEIC ACIDS RESEARCH

Abnormal expression of glutamate transporters in temporal lobe areas in elderly patients with schizophrenia

(2013) Dan Shan et al.   SCHIZOPHRENIA RESEARCH

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction

(2012) M Ayalew et al.   MOLECULAR PSYCHIATRY

Molecular evidence of N-methyl-D-aspartate receptor hypofunction in schizophrenia

(2012) C S Weickert et al.   MOLECULAR PSYCHIATRY

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

(2012) S Hong Lee et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

The ageing cortical synapse: hallmarks and implications for cognitive decline

(2012) John H. Morrison et al.   NATURE REVIEWS NEUROSCIENCE

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Dysregulation of synaptic proteins, dendritic spine abnormalities and pathological plasticity of synapses as experience-dependent mediators of cognitive and psychiatric symptoms in Huntington’s disease

(2012) J. Nithianantharajah et al.   NEUROSCIENCE

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

(2012) C. S. Cheah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Stimulus-Selective Response Plasticity in the Visual Cortex: An Assay for the Assessment of Pathophysiology and Treatment of Cognitive Impairment Associated with Psychiatric Disorders

(2011) Sam F. Cooke et al.   BIOLOGICAL PSYCHIATRY

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

From Revolution to Evolution: The Glutamate Hypothesis of Schizophrenia and its Implication for Treatment

(2011) Bita Moghaddam et al.   NEUROPSYCHOPHARMACOLOGY

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

(2010) S. F. Traynelis et al.   PHARMACOLOGICAL REVIEWS

Animal models of cognitive dysfunction and negative symptoms of schizophrenia: Focus on NMDA receptor antagonism

(2010) Joanna C. Neill et al.   PHARMACOLOGY & THERAPEUTICS

Common variants conferring risk of schizophrenia: A pathway analysis of GWAS data

(2010) Peilin Jia et al.   SCHIZOPHRENIA RESEARCH

Widespread changes in dendritic and axonal morphology inMecp2-mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks

(2009) Pavel V. Belichenko et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality

(2008) J. McGrath et al.   EPIDEMIOLOGIC REVIEWS

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database

(2008) Nicole C Allen et al.   NATURE GENETICS