Publications by authors named "R L Chase"

The transcription factor MYT1L supports proper neuronal differentiation and maturation during brain development. MYT1L haploinsufficiency results in a neurodevelopmental disorder characterized by intellectual disability, developmental delay, autism, behavioral disruptions, aggression, obesity and epilepsy. While MYT1L is expressed throughout the brain, how it supports proper neuronal function in distinct regions has not been assessed.

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Compared to men, women often develop COPD at an earlier age with worse respiratory symptoms despite lower smoking exposure. However, most preventive, and therapeutic strategies ignore biological sex differences in COPD. Our goal was to better understand sex-specific gene regulatory processes in lung tissue and the molecular basis for sex differences in COPD onset and severity.

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Article Synopsis
  • Genome-wide association studies (GWAS) have linked various genetic loci to chronic obstructive pulmonary disease (COPD), and integrating these with expression quantitative trait locus (eQTL) studies can reveal important biological mechanisms by identifying SNPs affecting gene expression.
  • This study utilized RNA sequencing data from a large cohort, examining both whole blood and lung tissue, to identify single nucleotide polymorphisms (SNPs) associated with alternative splicing (sQTL) and gene expression (eQTL) related to COPD.
  • The results highlighted 28,110 splice sites related to 3,889 genes in blood and 58,258 splice sites for 10,307 genes in lung tissue, uncovering shared and unique s
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Data-informed decision making is a critical goal for many community-based public health research initiatives. However, community partners often encounter challenges when interacting with data. The Community-Engaged Data Science (CEDS) model offers a goal-oriented, iterative guide for communities to collaborate with research data scientists through data ambassadors.

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