Publications by authors named "V Sartorelli"

Cells undergo tens of thousands of DNA-damaging events each day. Defects in repairing double-stranded breaks (DSBs) can lead to genomic instability, contributing to cancer, genetic disorders, immunological diseases, and developmental defects. Cohesin, a multi-subunit protein complex, plays a crucial role in both chromosome organization and DNA repair by creating architectural loops through chromatin extrusion.

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Adult stem cells maintain homeostasis and enable regeneration of most tissues. Quiescence, proliferation, and differentiation of stem cells and their progenitors are tightly regulated processes governed by dynamic transcriptional, epigenetic, and metabolic programs. Previously thought to merely reflect a cell's energy state, metabolism is now recognized for its critical regulatory functions, controlling not only energy and biomass production but also the cell's transcriptome and epigenome.

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Article Synopsis
  • Discontinuous transcription is a key aspect of gene regulation, but the detailed mechanisms behind transcriptional bursting remain unclear.
  • By using mathematical modeling on single-cell RNA sequencing data, researchers investigated the dynamics of transcriptional bursting and identified specific regulators like MED26, MYC, cohesin, and BRD4.
  • MED26 notably affects the frequency of bursting and has the most significant impact on the gene regulatory network, showing that stages beyond the initial transcription start are crucial for integrating gene networks in individual cells.
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Article Synopsis
  • Single-cell RNA sequencing (scRNA-seq) allows researchers to examine gene expression variations at a single-cell level, providing valuable information on cell differences and disease mechanisms.
  • Despite its benefits, scRNA-seq faces technical issues like low capture rates and dropout events that can complicate data analysis.
  • The article introduces a deep learning tool, the dynamic batching adversarial autoencoder (DB-AAE), designed to reduce noise in scRNA-seq data, and outlines the setup and training process for its implementation.
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