Publications by authors named "B E Bernstein"
Mammalian genomes contain millions of regulatory elements that control the complex patterns of gene expression. Previously, The ENCODE consortium mapped biochemical signals across many cell types and tissues and integrated these data to develop a Registry of 0.9 million human and 300 thousand mouse candidate cis-Regulatory Elements (cCREs) annotated with potential functions.
View Article and Find Full Text PDFVariability in the Evaluation and Treatment of Healthy Neonates With Uncomplicated Conjunctivitis.
J Pediatr Ophthalmol Strabismus
December 2024
Purpose: To explore the current state of diagnosis and management of neonatal conjunctivitis.
Methods: Cosmos, an EHR-based, de-identified data set including more than 200 million patients, was used for this study. Neonates born between January 1, 2016 and December 31, 2022, discharged from the hospital by day 3 of life, and with an ambulatory visit within the first 4 weeks of life associated with a new diagnosis of neonatal conjunctivitis (SNOMED) or conjunctivitis (ICD-10 H10.
Isocitrate dehydrogenase (IDH) mutants define a class of gliomas that are initially slow-growing but inevitably progress to fatal disease. To characterize their malignant cell hierarchy, we profiled chromatin accessibility and gene expression across single cells from low-grade and high-grade IDH-mutant gliomas and ascertained their developmental states through a comparison to normal brain cells. We provide evidence that these tumors are initially fueled by slow-cycling oligodendrocyte progenitor cell-like cells.
View Article and Find Full Text PDFArticle Synopsis
- The study addresses the difficulty of understanding how specific sequences in the genome relate to their functions, especially with limited tools for hypermutation.
- A new platform called helicase-assisted continuous editing (HACE) is introduced, which uses CRISPR-Cas9 to induce mutations over large sections of the genome effectively.
- HACE has been applied to study mutations related to drug resistance and missplicing, and it offers a robust way to explore both coding and noncoding genetic variants to better understand their roles in biological functions.
Article Synopsis
- Exposure to common anti-seizure medications (ASMs) during early brain development can lead to neurodevelopmental issues, including cell death and behavioral changes, as shown in both animal studies and clinical research.
- In a study involving postnatal rats, standard ASMs like valproate were found to significantly increase cell death in various brain regions, while the newer drugs brivaracetam (BRV) and perampanel (PER) showed no such effect.
- The findings indicate that BRV and PER might have a better safety profile concerning acute neurotoxicity, suggesting they could be safer alternatives for treating seizures in young patients.