Publications by authors named "Nancy S Yacovzada"

RNA G-quadruplexes (rG4s) are RNA secondary structures, which are formed by guanine-rich sequences and have important cellular functions. Existing computational tools for rG4 prediction rely on specific sequence features and/or were trained on small datasets, without considering rG4 stability information, and are therefore sub-optimal. Here, we developed rG4detector, a convolutional neural network to identify potential rG4s in transcriptomics data.

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Background And Purpose: The antisense oligonucleotide nusinersen (Spinraza) regulates splicing of the survival motor neuron 2 (SMN2) messenger RNA to increase SMN protein expression. Nusinersen has improved ventilator-free survival and motor function outcomes in infantile onset forms of spinal muscular atrophy (SMA), treated early in the course of the disease. However, the response in later onset forms of SMA is highly variable and dependent on symptom severity and disease duration at treatment initiation.

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Article Synopsis
  • - The study analyzes over 25,000 rare genetic variants in noncoding regions related to amyotrophic lateral sclerosis (ALS) using data from more than 6,000 ALS patients and over 70,000 controls.
  • - Researchers found that specific variants in the 3' untranslated region of the IL18RAP gene are more common in non-ALS individuals, significantly lowering their risk of developing ALS by five times.
  • - These IL18RAP variants enhance the survival of motor neurons by reducing neuroinflammation, highlighting the critical role of noncoding regions in genetic studies related to diseases like ALS.
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Objectives: Until recently, communication between neighboring cells in islets of Langerhans was overlooked by genomic technologies, which require rigorous tissue dissociation into single cells.

Methods: We utilize sorting of physically interacting cells (PICs) with single-cell RNA-sequencing to systematically map cellular interactions in the endocrine pancreas after pancreatectomy.

Results: The pancreas cellular landscape features pancreatectomy associated heterogeneity of beta-cells, including an interaction-specific program between paired beta and delta-cells.

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Amyotrophic lateral sclerosis (ALS) is a relentless neurodegenerative disease of the human motor neuron system, where variability in progression rate limits clinical trial efficacy. Therefore, better prognostication will facilitate therapeutic progress. In this study, we investigated the potential of plasma cell-free microRNAs (miRNAs) as ALS prognostication biomarkers in 252 patients with detailed clinical phenotyping.

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A new study by Islam et al, in this issue of EMBO Molecular Medicine, reports three microRNAs in the blood that are linked to inter-individual differences in cognition, prior to any sign of cognitive decline. The novel miRNA biomarkers may assist in predicting the risk of cognitive decline and later of developing dementia and can contribute to decision strategies about early therapeutic interventions.

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