[HTML][HTML] Synaptic and gene regulatory mechanisms in schizophrenia, autism, and 22q11. 2 copy number variant–mediated risk for neuropsychiatric disorders
Abstract Background 22q11. 2 copy number variants are among the most highly penetrant
genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia …
genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia …
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome
Abstract The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other
neurodevelopmental and psychiatric disorders. However, no single gene in this interval is …
neurodevelopmental and psychiatric disorders. However, no single gene in this interval is …
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
Abstract Background and Hypothesis The synaptic pruning hypothesis posits that
schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of …
schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of …
Multiple genes in a single GWAS risk locus synergistically mediate aberrant synaptic development and function in human neurons
The mechanistic tie between genome-wide association study (GWAS)-implicated risk
variants and disease-relevant cellular phenotypes remains largely unknown. Here, using …
variants and disease-relevant cellular phenotypes remains largely unknown. Here, using …
Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis
Genome-wide association studies have identified 108 schizophrenia risk loci, but biological
mechanisms for individual loci are largely unknown. Using developmental, genetic and …
mechanisms for individual loci are largely unknown. Using developmental, genetic and …
Synaptic and brain-expressed gene sets relate to the shared genetic risk across five psychiatric disorders
AR Hammerschlag, CA de Leeuw… - Psychological …, 2020 - cambridge.org
BackgroundMounting evidence shows genetic overlap between multiple psychiatric
disorders. However, the biological underpinnings of shared risk for psychiatric disorders are …
disorders. However, the biological underpinnings of shared risk for psychiatric disorders are …
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
Transcriptional and behavioral interaction between 22q11. 2 orthologs modulates schizophrenia-related phenotypes in mice
M Paterlini, SS Zakharenko, WS Lai, J Qin… - Nature …, 2005 - nature.com
Abstract Microdeletions of 22q11. 2 represent one of the highest known genetic risk factors
for schizophrenia. It is likely that more than one gene contributes to the marked risk …
for schizophrenia. It is likely that more than one gene contributes to the marked risk …
[HTML][HTML] Genetic control of expression and splicing in developing human brain informs disease mechanisms
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
The 22q11. 2 region regulates presynaptic gene-products linked to schizophrenia
R Nehme, O Pietiläinen, M Artomov… - Nature …, 2022 - nature.com
It is unclear how the 22q11. 2 deletion predisposes to psychiatric disease. To study this, we
generated induced pluripotent stem cells from deletion carriers and controls and utilized …
generated induced pluripotent stem cells from deletion carriers and controls and utilized …