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Showing 1–50 of 329 results
Advanced filters: Author: Benjamin Turner Clear advanced filters
  • The APOE-ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, but it is not deterministic. Here, the authors show that common genetic variation changes how APOE-ε4 influences cognition.

    • Alex G. Contreras
    • Skylar Walters
    • Timothy J. Hohman
    ResearchOpen Access
    Nature Communications
    P: 1-17
  • T cells contribute to protection and pathogenesis in tuberculosis. Here the authors sequence T cell receptor repertoires in human skin biopsies from the site of the tuberculin skin test and show enrichment of clonotypes reactive to Mycobacterium tuberculosis using a computational pipeline metaclonotypist to identify distinct TCRs predicted to share peptide-MHC reactivity across participants, as an approach to explore T cell correlates of tuberculosis disease-risk stratification and vaccine efficacy.

    • Carolin T. Turner
    • Andreas Tiffeau-Mayer
    • Mahdad Noursadeghi
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-16
  • In quantum information technology the output of one element often does not match the required frequency and bandwidth of the input of the next element. Here, Allgaieret al. demonstrate simultaneous frequency and bandwidth conversion of single photons without changing their quantum statistics.

    • Markus Allgaier
    • Vahid Ansari
    • Christine Silberhorn
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-6
  • The study introduces radio interferometric multiplexed spectroscopy (RIMS), a method designed to efficiently monitor the radio emissions of massive samples of stars. Applying it to LOFAR data, the authors identify stellar bursts, offering clues to possible star–planet magnetic interactions.

    • Cyril Tasse
    • Philippe Zarka
    • Xiang Zhang
    Research
    Nature Astronomy
    P: 1-10
  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477
  • Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

    • Sanna Gudmundsson
    • Moriel Singer-Berk
    • Anne O’Donnell-Luria
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

    • Matthew A. Reyna
    • David Haan
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-17
  • Extrachromosomal DNA (ecDNA) drives oncogene amplification, tumour evolution and therapy resistance across cancers. This Review summarizes advances in ecDNA biology, highlights emerging therapeutic vulnerabilities and outlines strategies to improve ecDNA detection and translate ecDNA-targeted approaches from bench to bedside.

    • Ivy Tsz-Lo Wong
    • Hyerim Yi
    • Paul S. Mischel
    Reviews
    Nature Reviews Drug Discovery
    P: 1-16
  • Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

    • Sébastien Küry
    • Janelle E. Stanton
    • Elke Krüger
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-21
  • iGluSnFR4f and iGluSnFR4s are the latest generation of genetically encoded glutamate sensors. They are advantageous for detecting rapid dynamics and large population activity, respectively, as demonstrated in a variety of applications in the mouse brain.

    • Abhi Aggarwal
    • Adrian Negrean
    • Kaspar Podgorski
    ResearchOpen Access
    Nature Methods
    Volume: 23, P: 417-425
  • Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

    • Andrew D. Grotzinger
    • Josefin Werme
    • Jordan W. Smoller
    ResearchOpen Access
    Nature
    Volume: 649, P: 406-415
  • An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

    • Erola Pairo-Castineira
    • Konrad Rawlik
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 617, P: 764-768
  • The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

    • Lauri A. Aaltonen
    • Federico Abascal
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 82-93
  • Whether air pollufion is associated with urological cancer is largely unknown. In this study, the authors reveal correlafions between air pollufion and urological cancer risk: an increase of 5 μg/m3 in PM2.5 and 10 μg/m3 in NO2 would raise risks by 6-9% and 3-4%, respecfively; while lowering PM2.5 to 5.8 μg/m3 may reduce urological cancer burden.

    • Jinhui Li
    • Zhengyi Deng
    • Benjamin I. Chung
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17
  • Certain specific antigens have been shown to activate T cells in an MHC independent manner. Here the authors show a phycoerythrin reactive mouse TCR which recognises native protein and characterise the molecular nature of this interaction and that this specific TCR can be selected in the thymus.

    • Catarina F. Almeida
    • Benjamin S. Gully
    • Dale I. Godfrey
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18
  • Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

    • Esther Rheinbay
    • Morten Muhlig Nielsen
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 102-111
  • Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

    • Marta Paczkowska
    • Jonathan Barenboim
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16
  • Post-infectious myalgic encephalomyelitis/chronic fatigue syndrome (PI-ME/CFS) is a disabling disorder, yet the clinical phenotype is poorly defined and the pathophysiology unknown. Here, the authors conduct deep phenotyping of a cohort of PI-ME/CFS patients.

    • Brian Walitt
    • Komudi Singh
    • Avindra Nath
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-29
  • The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

    • Pradeep Natarajan
    • Akhil Pampana
    • Gina M. Peloso
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14
  • Single-molecule studies allow biological processes to be examined one molecule at a time, as they occur. Here, zero-mode waveguides have been used to concentrate reactions in zeptolitre-sized volumes, making it possible to study real-time translocation by the ribosome. The binding of transfer RNAs (tRNAs) to the ribosome could be followed; the results show that tRNA release from the exit site is uncoupled from tRNA binding to the aminoacyl-tRNA site.

    • Sotaro Uemura
    • Colin Echeverría Aitken
    • Joseph D. Puglisi
    Research
    Nature
    Volume: 464, P: 1012-1017
  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103
  • Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

    • Cristian Pattaro
    • Alexander Teumer
    • Caroline S. Fox
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-19
  • Analysis of cancer genome sequencing data has enabled the discovery of driver mutations. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium the authors present DriverPower, a software package that identifies coding and non-coding driver mutations within cancer whole genomes via consideration of mutational burden and functional impact evidence.

    • Shimin Shuai
    • Federico Abascal
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

    • Moritz Gerstung
    • Clemency Jolly
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 122-128
  • The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.

    • Marek Cmero
    • Ke Yuan
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15
  • Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.

    • Yulia Rubanova
    • Ruian Shi
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • Certo, Pontarini et al. provide insight into the metabolic requirements of ectopic lymphoid structure (ELS) assembly in the context of autoimmunity, and show that blocking lactate uptake by SLC5A12 offers therapeutic benefits in a mouse model of Sjögren’s disease.

    • Michelangelo Certo
    • Elena Pontarini
    • Claudio Mauro
    ResearchOpen Access
    Nature Metabolism
    Volume: 7, P: 1663-1680
  • Broad uptake of smFRET has been hindered by high instrument costs and a lack of open-source hardware and acquisition software. Here, the authors present the smfBox, a cost-effective open-source platform capable of measuring precise FRET efficiencies between dyes on freely diffusing single molecules.

    • Benjamin Ambrose
    • James M. Baxter
    • Timothy D. Craggs
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-6
  • The theory-guided synthesis of a tungsten-based W2TiC2Tx MXene from a non-MAX nanolaminated ternary carbide (W,Ti)4C4−y is reported. The tungsten-rich basal plane of the W2TiC2Tx MXene is then examined for the electrocatalytic hydrogen evolution reaction using a combined experimental and theoretical approach.

    • Anupma Thakur
    • Wyatt J. Highland
    • Babak Anasori
    Research
    Nature Synthesis
    Volume: 4, P: 888-900
  • A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

    • Siwei Chen
    • Laurent C. Francioli
    • Konrad J. Karczewski
    Research
    Nature
    Volume: 625, P: 92-100
  • The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

    • Barbara Franke
    • Jason L Stein
    • Patrick F Sullivan
    Research
    Nature Neuroscience
    Volume: 19, P: 420-431
  • The authors present a multicenter database to investigate the neural correlates of dreaming, including physiological, behavioral and experiential data. This database could boost the research on the mechanisms of dreaming in humans and the signatures of consciousness.

    • William Wong
    • Rubén Herzog
    • Naotsugu Tsuchiya
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-11
  • There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

    • Constance H. Li
    • Stephenie D. Prokopec
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-24