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Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain.
TLDR
Val is a predominant factor that determines higher COMT activity in the prefrontal cortex, which presumably leads to lower synaptic dopamine levels and relatively deleterious prefrontal function. Expand
Spatiotemporal transcriptome of the human brain
TLDR
The generation and analysis of exon-level transcriptome and associated genotyping data, representing males and females of different ethnicities, from multiple brain regions and neocortical areas of developing and adult post-mortem human brains, finds that 86 per cent of the genes analysed were expressed, and that 90 per cent were differentially regulated at the whole-transcript or exon level acrossbrain regions and/or time. Expand
Temporal dynamics and genetic control of transcription in the human prefrontal cortex
TLDR
The temporal dynamics and genetic control of transcription in human prefrontal cortex in an extensive series of post-mortem brains from fetal development through ageing is explored, finding a wave of gene expression changes occurring during fetal development which are reversed in early postnatal life. Expand
Genetic variation in CACNA1C affects brain circuitries related to mental illness.
TLDR
The risk-associated single-nucleotide polymorphism in CACNA1C maps to circuitries implicated in genetic risk for bipolar disorder and schizophrenia, and its effects in human brain expression implicate a molecular and neural system mechanism for the clinical genetic association. Expand
Variation in GRM3 affects cognition, prefrontal glutamate, and risk for schizophrenia.
GRM3, a metabotropic glutamate receptor-modulating synaptic glutamate, is a promising schizophrenia candidate gene. In a family-based association study, a common GRM3 haplotype was stronglyExpand
Reduced brain-derived neurotrophic factor in prefrontal cortex of patients with schizophrenia
TLDR
This study demonstrates a reduction in BDNF production and availability in the DLPFC of schizophrenics, and suggests that intrinsic cortical neurons, afferent neurons, and target neurons may receive less trophic support in this disorder. Expand
Catechol O-methyltransferase mRNA expression in human and rat brain: evidence for a role in cortical neuronal function
TLDR
Contrary to expectations that COMT would be expressed predominantly in non-neuronal cells, the present study shows that neurons are the main cell populations expressing COMT mRNA in the prefrontal cortex and striatum. Expand
Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5' SNPs associated with the disease.
TLDR
Bioinformatic promoter analyses indicate that variation in isoform expression as a molecular mechanism for the genetic association of NRG1 with schizophrenia implicate variation inisoform expression in patients and controls. Expand
Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia.
TLDR
Dysregulation of splice-variant specific expression of ErbB4 in the brain underlies the genetic association of the gene with schizophrenia and that the NRG1/ErbB 4 signaling pathway may be an important genetic network involved in the pathogenesis of the disease. Expand
DNA methylation signatures in development and aging of the human prefrontal cortex.
TLDR
The results indicate that promoter DNA methylation in the human PFC is a highly dynamic process modified by genetic variance and regulating gene transcription, which correlates with expression of a subset of genes, including genes involved in brain development and in de novoDNA methylation. Expand
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