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Showing 1–17 of 17 results
Advanced filters: Author: Nancy J. Francoeur Clear advanced filters

  • Multisystem inflammatory syndrome in children (MIS-C) onsets in COVID-19 patients with manifestations similar to Kawasaki disease (KD). Here the author probe the peripheral blood transcriptome of MIS-C patients to find signatures related to natural killer (NK) cell activation and CD8+ T cell exhaustion that are shared with KD patients.

    • Noam D. Beckmann
    • Phillip H. Comella
    • Alexander W. Charney
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-15

  • Human embryo development involves extensive transcriptional remodeling. In this study, the authors apply long- and short-read RNA-Seq to profile the transcriptomes of 73 human preimplantation embryos spanning zygotic to blastocyst stages, identifying tens of thousands of additional isoforms transcribed from both known and unannotated gene loci.

    • Denis Torre
    • Nancy J. Francoeur
    • Robert Sebra
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-23

  • This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and novel isoforms in 555 samples from 391 donors finds associations with genetic risk loci in Alzheimer’s and Parkinson’s diseases.

    • Jack Humphrey
    • Erica Brophy
    • Towfique Raj
    Research
    Nature Genetics
    Volume: 57, P: 604-615

  • A randomized trial in patients hospitalized with COVID-19 showed no benefit and potentially increased harm associated with the use of convalescent plasma, with subgroup analyses suggesting that the antibody profile in donor plasma is critical in determining clinical outcomes.

    • Philippe Bégin
    • Jeannie Callum
    • Donald M. Arnold
    ResearchOpen Access
    Nature Medicine
    Volume: 27, P: 2012-2024

  • Transcriptome and functional studies in human iPSC-derived neurons suggest that the phenotypic effects of NRXN1 deletions can occur through reduction in wild-type NRXN1α isoform levels and expression of mutant NRXN1α isoforms.

    • Erin Flaherty
    • Shijia Zhu
    • Kristen J. Brennand
    Research
    Nature Genetics
    Volume: 51, P: 1679-1690

  • The authors show that the pathogen Staphylococcus aureus induces a distinct airway immunometabolic response, dominated by release of itaconate. This metabolite, in turn, potentiates extracellular polysaccharide synthesis and biofilm formation in S. aureus, which may facilitate chronic infection.

    • Kira L. Tomlinson
    • Tania Wong Fok Lung
    • Sebastián A. Riquelme
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-13

  • A high-fructose diet in mice improves the survival of intestinal epithelial cells, which leads to an increase in gut surface area, enhanced absorption of lipids and the promotion of tumour growth and obesity.

    • Samuel R. Taylor
    • Shakti Ramsamooj
    • Marcus D. Goncalves
    Research
    Nature
    Volume: 597, P: 263-267

  • The cellular heterogeneity in brain obscures the identification of robust cellular regulatory networks. Here the authors integrate genome-wide chromosome conformation data from sorted neurons and glia, with transcriptomic and enhancer profiles, to characterize cell-type-specific gene regulatory landscapes in the human brain, and provide insights into cell-type-specific gene regulatory networks in brain disorders.

    • Benxia Hu
    • Hyejung Won
    • Daniel H. Geschwind
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-13

  • Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease.

    • Lide Han
    • Xuefang Zhao
    • Douglas M. Ruderfer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13

  • Recent research on disparate psychiatric disorders has implicated rare variants in genes involved in global gene regulation and chromatin modification, as well as many common variants located primarily in regulatory regions of the genome. Understanding precisely how these variants contribute to disease will require a deeper appreciation for the mechanisms of gene regulation in the developing and adult human brain. The PsychENCODE project aims to produce a public resource of multidimensional genomic data using tissue- and cell type–specific samples from approximately 1,000 phenotypically well-characterized, high-quality healthy and disease-affected human post-mortem brains, as well as functionally characterize disease-associated regulatory elements and variants in model systems. We are beginning with a focus on autism spectrum disorder, bipolar disorder and schizophrenia, and expect that this knowledge will apply to a wide variety of psychiatric disorders. This paper outlines the motivation and design of PsychENCODE.

    • Schahram Akbarian
    • Chunyu Liu
    • Nenad Sestan
    Comments & Opinion
    Nature Neuroscience
    Volume: 18, P: 1707-1712