Publications by authors named "Kira A Perzel Mandell"

Cell-specific microRNA (miRNA) expression estimates are important in characterizing the localization of miRNA signaling within tissues. Much of these data are obtained from cultured cells, a process known to significantly alter miRNA expression levels. Thus, our knowledge of in vivo cell miRNA expression estimates is poor.

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There is growing evidence for the role of DNA methylation (DNAm) quantitative trait loci (mQTLs) in the genetics of complex traits, including psychiatric disorders. However, due to extensive linkage disequilibrium (LD) of the genome, it is challenging to identify causal genetic variations that drive DNAm levels by population-based genetic association studies. This limits the utility of mQTLs for fine-mapping risk loci underlying psychiatric disorders identified by genome-wide association studies (GWAS).

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Article Synopsis
  • * Research revealed significant differences in gene expression related to antipsychotic drug toxicity in the human caudate nucleus, but no major differences in DNA methylation, echoing similarities found between schizophrenia cases and controls.
  • * The study highlights varying gene expression changes in different brain regions and compares findings to a mouse model, noting some similarities but also significant differences, indicating that the effects of antipsychotics may stabilize over the long term.
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  • DNA methylation (DNAm) is crucial for gene regulation and is influenced by environmental factors, and this study investigates its role in the brains of neurotypical individuals versus those with schizophrenia.
  • Using whole-genome bisulfite sequencing on 344 brain tissue samples, researchers found that a significant proportion of genetic variation (like SNPs) affects local methylation levels, particularly around CpG and CpH sites.
  • The study suggests that regions of the genome differentially affected by schizophrenia risk variants explain much of the heritability linked to schizophrenia, highlighting the potential of these epigenetic changes in understanding the disorder.
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  • DNA methylation (DNAm) plays a crucial role in regulating gene expression during the development of the prenatal brain, which is a complex and changing tissue.
  • Researchers investigated methylation patterns at over 39 million sites in the prenatal cortex and discovered dynamic changes that are linked to nearby gene expression and associated with neuropsychiatric disorders.
  • The study identified differences in DNAm between sexes during prenatal development and confirmed that the changes primarily involve CpG methylation, offering insights into both brain development and potential mental health issues later in life.
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