Transcriptome analysis and functional characterization of cerebral organoids in bipolar disorder

A Kathuria, K Lopez-Lengowski, M Vater, D McPhie… - Genome medicine, 2020 - Springer
… cell adhesion, neurodevelopment, and synaptic biology in bipolar disorder along with … loci
include a number of genes that code for genes involved in neurodevelopment, synaptic biology

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
… Because of the clear synaptic signal, … biological processes implicated by common and
ultra-rare genetic variation and that URVs can be leveraged to prioritize genes within GWAS loci. …

Whole‐genome sequencing reveals new Alzheimer's disease–associated rare variants in loci related to synaptic function and neuronal development

D Prokopenko, SL Morgan, K Mullin… - Alzheimer's & …, 2021 - Wiley Online Library
… Downstream analyses of these novel loci highlight synaptic function, in contrast to common
AD-associated variants, which implicate innate immunity and amyloid processing. These loci

MicroRNA137-loaded lipid nanoparticles regulate synaptic proteins in the prefrontal cortex

MC Palumbo, M Gautam, A Sonneborn, K Kim… - Molecular Therapy, 2023 - cell.com
synaptic functioning, are also associated with an increased risk of SCZ. Thus, miR137 represents
an attractive target aimed at correcting the molecular basis for synapticsynaptic protein …

[PDF][PDF] Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

SR Gilman, I Iossifov, D Levy, M Ronemus, M Wigler… - Neuron, 2011 - cell.com
biological network of genes affected by rare de novo CNVs in autism. The genes forming the
network are primarily related to synapse … autistic children contained 47 loci in total affecting …

Connecting myelin-related and synaptic dysfunction in schizophrenia with SNP-rich gene expression hubs

H Hegyi - Scientific reports, 2017 - nature.com
… After determining the correlating and anti-correlating neighbors of genes in the 108 loci we
… significant biological process associated with this gene set is again “synaptic transmission”. …

The genesis of schizophrenia: an origin story

R Birnbaum, DR Weinberger - American Journal of Psychiatry, 2024 - Am Psychiatric Assoc
… yielded 287 distinct genomic loci significantly associated with schizophrenia, each … on
synaptic biology and synaptic pruning. A synaptic pruning hypothesis of schizophrenia posits that …

Exploring the genetic overlap between twelve psychiatric disorders

C Romero, J Werme, PR Jansen, J Gelernter… - Nature …, 2022 - nature.com
… Overall, identification of shared biological mechanisms … by also scrutinizing overlap in genomic
loci, SNPs, genes, gene … has synaptic annotations and whether any synaptic processes or …

[PDF][PDF] Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function

S Cohen, HW Gabel, M Hemberg, AN Hutchinson… - Neuron, 2011 - cell.com
… vivo results in defects in synapse development and behavior, … Although both genetic and
molecular biological approaches … To address this, we analyzed MeCP2 binding at multiple loci

Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection

SW Flavell, TK Kim, JM Gray, DA Harmin, M Hemberg… - Neuron, 2008 - cell.com
… We performed MEF2D ChIP-chip using a custom tiling microarray containing the genomic
loci of the 182 genes identified in our mRNA profiling experiments (including 10 kb 5′ and 3…