Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture

International League Against Epilepsy Consortium on … - MedRxiv, 2022 - medrxiv.org
… an involvement of synapse biology, primarily intracellular signal transduction and synapse
excitability. These findings suggest an important role of synaptic processes in excitatory and …

Shared genetic determinants of schizophrenia and autism spectrum disorder implicate opposite risk patterns: A genome-wide analysis of common variants

Y Chen, W Li, L Lv, W Yue - Schizophrenia Bulletin, 2024 - academic.oup.com
… For distinct genomic loci, we combined all loci that were … the lead SNP of the combined
locus. LD calculations utilized the … Mapping genomic loci implicates genes and synaptic biology

The neuroepigenome: implications of chemical and physical modifications of genomic DNA in schizophrenia

K Girdhar, S Rahman, P Dong, JF Fullard… - Biological Psychiatry, 2022 - Elsevier
… , identified from the biological pathways affected by risk loci and from neuroimaging studies
(… , synaptic plasticity and neurodevelopment. First, we present the basic biological definitions …

Genome-wide association studies of human adiposity: zooming in on synapses

CH Sandholt, N Grarup, O Pedersen… - Molecular and cellular …, 2015 - Elsevier
… of the biological knowledge, beginning to emerge from the intricate genomic background …
the interpretation of significant associations in a genomic locus can be. Since the discovery …

[HTML][HTML] Synaptic and gene regulatory mechanisms in schizophrenia, autism, and 22q11. 2 copy number variant–mediated risk for neuropsychiatric disorders

JK Forsyth, D Nachun, MJ Gandal, DH Geschwind… - Biological …, 2020 - Elsevier
… 2 locus relative to all regions of the genome and gene content per module, the rank of the
22q11.2 locus was compared to the empirical distribution from all equal-sized genomic regions…

[PDF][PDF] Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology

B Alipanahi, F Hormozdiari, B Behsaz… - The American Journal of …, 2021 - cell.com
… The ML-based GWAS also identified 93 novel loci, significantly … the biological significance
of the novel hits to VCDR: select loci near genes involved in neuronal and synaptic biology or …

The RNA-centred view of the synapse: non-coding RNAs and synaptic plasticity

NR Smalheiser - … of the Royal Society B: Biological …, 2014 - royalsocietypublishing.org
… early phase of learning and are linked to synaptic plasticity loci. It is interesting to note that
… to detect the specific signatures of individual siRNAs associated with synaptic plasticity loci. …

Genetic architecture of schizophrenia: a review of major advancements

SE Legge, ML Santoro, S Periyasamy… - Psychological …, 2021 - cambridge.org
… of the Psychiatric Genomics Consortium, Ripke, S., Walters, JT, & O’Donovan, MC (2020).
Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. …

[HTML][HTML] Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

J Wen, B Trost, W Engchuan, M Halvorsen… - Molecular …, 2023 - nature.com
… Our study is underpowered to detect individual loci of rare TREs associated with schizophrenia
at genome-wide significance (Supplementary Fig. 8). We compared the individual rare …

[HTML][HTML] Removal of a partial genomic duplication restores synaptic transmission and behavior in the MyosinVA mutant mouse Flailer

FJ Bustos, S Pandian, H Haensgen, JP Zhao, H Strouf… - BMC biology, 2023 - Springer
… against Synaptophysin (pre-synaptic protein) and PSD95 (post-synaptic protein). We found
… flailer genomic locus, resulting in a reduction of its expression that can rescue the synaptic