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Showing 51–100 of 238 results
Advanced filters: Author: Andrew Richards Clear advanced filters
  • 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
  • Genome-wide ancient DNA data from individuals from the Middle Bronze Age to Iron Age documents large-scale movement of people from the European continent between 1300 and 800 bc that was probably responsible for spreading early Celtic languages to Britain.

    • Nick Patterson
    • Michael Isakov
    • David Reich
    Research
    Nature
    Volume: 601, P: 588-594
  • Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

    • Puya Gharahkhani
    • Eric Jorgenson
    • Janey L. Wiggs
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-16
  • The Gulf Stream was positioned further south during the Little Ice Age than today as a result of strengthened Labrador and Deep Western Boundary Currents and negative North Atlantic Oscillation, according to a high-resolution magnesium record from a Bermudan stalagmite

    • Edward C. G. Forman
    • James U. L. Baldini
    • Andrew J. Peters
    ResearchOpen Access
    Communications Earth & Environment
    Volume: 6, P: 1-11
  • In a GWAS study of 32,438 adults, the authors discovered five novel loci for intracranial volume and confirmed two known signals. Variants for intracranial volume were also related to childhood and adult cognitive function and to Parkinson's disease, and enriched near genes involved in growth pathways, including PI3K-AKT signaling.

    • Hieab H H Adams
    • Derrek P Hibar
    • Paul M Thompson
    Research
    Nature Neuroscience
    Volume: 19, P: 1569-1582
  • This meta-analysis of genome-wide association studies identifies four genetic loci associated with circulating leptin levels independent of adiposity. Examination in mouse adipose tissue explants provides functional support for the leptin-associated loci.

    • Tuomas O. Kilpeläinen
    • Jayne F. Martin Carli
    • Ruth J. F. Loos
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-14
  • A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

    • Antonia Ho
    • Richard Orton
    • Emma C. Thomson
    Research
    Nature
    Volume: 617, P: 555-563
  • Competition between agriculture and land conservation may hinder climate and biodiversity targets. Here, the authors use global models integrating multiple spatial scales to assess how ambitious land conservation action and associated land-use dynamics could drive changes in landscape heterogeneity, pollination supply and soil loss.

    • Patrick José von Jeetze
    • Isabelle Weindl
    • Alexander Popp
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-14
  • The beetle Tribolium castaneum is a commonly used laboratory model, combining the ease of systematic RNAi experiments like those in Caenorhabditis elegans, with biology that is more representative of most insects than Drosophila melanogaster. A large consortium has sequenced and analysed the genome of the red flour beetle, creating a resource for biologists everywhere.

    • Stephen Richards
    • Richard A. Gibbs
    • Gregor Bucher
    ResearchOpen Access
    Nature
    Volume: 452, P: 949-955
  • The prognosis of castration-resistant prostate cancers remains dismal, but accurate preclinical models can lead to effective therapies. Here the Melbourne Urological Research Alliance establish prostate cancer patient-derived xenografts, use the tumors for organoids and single-cell RNA-seq, and show the efficacy of PARP inhibitor combination treatments.

    • Gail P. Risbridger
    • Ashlee K. Clark
    • Renea A. Taylor
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-17
  • The SUMO-specific protease SENP1 is activated by binding of its substrate, SUMO1, to a site remote from the catalytic cleft. Chen et al. characterise the dynamic changes in SENP1 conformation associated with substrate binding, and reveal how they influence the catalytic activity of the enzyme.

    • Chih-Hong Chen
    • Andrew T. Namanja
    • Yuan Chen
    Research
    Nature Communications
    Volume: 5, P: 1-10
  • A stiff hydrogel gel is presented that encapsulates and stabilizes proteins without additives or excipients and uses mechanical strain to release them, offering low-cost and versatile delivery of therapies.

    • Simona Bianco
    • Muhammad Hasan
    • Dave J. Adams
    ResearchOpen Access
    Nature
    Volume: 631, P: 544-548
  • Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

    • Klaudia Walter
    • Josine L. Min
    • Weihua Zhang
    ResearchOpen Access
    Nature
    Volume: 526, P: 82-90
  • Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

    • Nicholas J. Timpson
    • Klaudia Walter
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-11
  • Patient-derived xenografts are important tools for cancer drug development. Here, the authors develop models from 22 non-small cell lung cancer patients. They show genomic differences between models created from different spatial regions of tumours and a bottleneck on model establishment.

    • Robert E. Hynds
    • Ariana Huebner
    • Charles Swanton
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-21
  • Mixed responses to targeted therapy within a patient are a clinical challenge. Here the authors show that TP53 loss-of-function cooperates with whole genome doubling which increases chromosomal instability. This leads to greater cellular diversity and multiple routes of resistance, which in turn promotes mixed responses to treatment.

    • Sebastijan Hobor
    • Maise Al Bakir
    • Charles Swanton
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-21
  • The CNV analysis group of the Psychiatric Genomic Consortium analyzes a large schizophrenia cohort to examine genomic copy number variants (CNVs) and disease risk. They find an enrichment of CNV burden in cases versus controls and identify 8 genome-wide significant loci as well as novel suggestive loci conferring either risk or protection to schizophrenia.

    • Christian R Marshall
    • Daniel P Howrigan
    • Jonathan Sebat
    Research
    Nature Genetics
    Volume: 49, P: 27-35
  • Combination of epidemiology, preclinical models and ultradeep DNA profiling of clinical cohorts unpicks the inflammatory mechanism by which air pollution promotes lung cancer

    • William Hill
    • Emilia L. Lim
    • Charles Swanton
    Research
    Nature
    Volume: 616, P: 159-167
  • Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

    • Nolan Kamitaki
    • Aswin Sekar
    • Steven A. McCarroll
    Research
    Nature
    Volume: 582, P: 577-581
  • The activity of PD-1 blockade in patients with sarcoma has been modest so far. Here, the authors report the results of a pilot clinical trial to assess the efficacy and safety of bempegaldesleukin, a CD122-preferential interleukin-2 (IL-2) pathway agonist, in combination with the PD1 blockade (nivolumab) in patients with locally advanced or metastatic high-grade sarcoma.

    • Sandra P. D’Angelo
    • Allison L. Richards
    • William D. Tap
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-11
  • Post-translational site-selective formation of boronoalanine in proteins enables applications of boron for binding partner capture, footprinting of interactions with reactive oxygen species, proteolytic control and mapping of transient structures.

    • Tim A. Mollner
    • Patrick G. Isenegger
    • Benjamin G. Davis
    ResearchOpen Access
    Nature Chemical Biology
    Volume: 17, P: 1245-1261
  • X-ray fee-electron lasers (XFELs) enable time-resolved crystallography experiments and the structure determination of proteins with little or no radiation damage. However currently it is unknown whether the designated 4.5 MHz maximum pulse rate for the European XFEL could lead to sample damage caused by shock waves from preceding pulses. Here, the authors address this question by performing a X-ray pump X-ray probe experiment on haemoglobin microcrystals at the Stanford XFEL facility that mimics the 4.5 MHz data collection mode and observe structural changes and a drop in diffraction data quality of the crystals.

    • Marie Luise Grünbein
    • Alexander Gorel
    • Ilme Schlichting
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-11
  • Results of the TRACERx study shed new light into the association between body composition and body weight with survival in individuals with non-small cell lung cancer, and delineate potential biological processes and mediators contributing to the development of cancer-associated cachexia.

    • Othman Al-Sawaf
    • Jakob Weiss
    • Charles Swanton
    Research
    Nature Medicine
    Volume: 29, P: 846-858
  • Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine common or low-frequency variants associated with these traits.

    • Simon Haworth
    • Chin Yang Shapland
    • Beate St Pourcain
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16
  • Unlike homo-dihalogenation, selective hetero-dihalogenation reactions are underdeveloped. Now an oxidative alkene hetero-dihalogenation reaction adds chloride and fluoride ions over unactivated alkenes with high regio-, chemo- and diastereoselectivity. A switch in the mechanism triggers a reversal of the diastereoselectivity to promote either anti- or syn-addition.

    • Sayad Doobary
    • Andrew J. D. Lacey
    • Alastair J. J. Lennox
    ResearchOpen Access
    Nature Chemistry
    Volume: 16, P: 1647-1655
  • Sequencing the genomes of two enteropneusts reveals complex genomic organization and developmental innovation in the ancestor of deuterostomes, a group of animals including echinoderms (starfish and their relatives) and chordates (which includes humans).

    • Oleg Simakov
    • Takeshi Kawashima
    • John Gerhart
    ResearchOpen Access
    Nature
    Volume: 527, P: 459-465
  • CONSORT 2025 provides updated guidance to authors, reviewers and editors, when writing and evaluating manuscripts of randomized trials to ensure that trial reports are clear and transparent

    • Sally Hopewell
    • An-Wen Chan
    • Isabelle Boutron
    Reviews
    Nature Medicine
    Volume: 31, P: 1776-1783
  • Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

    • Jie Huang
    • Bryan Howie
    • Nicole Soranzo
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9
  • Previous work has identified several genes where mutations lead to breast cancer, but other genetic and environmental factors must still be accounted for. A large study of genetic association with breast cancer points to four novel genes and many more genetic markers that should be pursued for their link to cancer susceptibility.

    • Douglas F. Easton
    • Karen A. Pooley
    • Bruce A. J. Ponder
    Research
    Nature
    Volume: 447, P: 1087-1093
  • Analyses of the TRACERx study unveil the relationship between tissue morphology, the underlying evolutionary genomic landscape, and clinical and anatomical relapse risk of lung adenocarcinomas.

    • Takahiro Karasaki
    • David A. Moore
    • Mariam Jamal-Hanjani
    Research
    Nature Medicine
    Volume: 29, P: 833-845
  • An integrated transcriptome, genome, methylome and proteome analysis of over 200 lung adenocarcinomas reveals high rates of somatic mutations, 18 statistically significantly mutated genes including RIT1 and MGA, splicing changes, and alterations in MAPK and PI(3)K pathway activity.

    • Eric A. Collisson
    • Joshua D. Campbell
    • Ming-Sound Tsao
    ResearchOpen Access
    Nature
    Volume: 511, P: 543-550
  • A gene regulatory network, including the transcription factor Nkx2-5, regulates cardiac development. Here, the authors show that on deletion of NKX2-5 from human embryonic stem cells, there is impaired cardiomyogenesis and changes in action potentials, and that this is regulated via HEY2.

    • David J. Anderson
    • David I. Kaplan
    • David A. Elliott
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13
  • Archaeogenetic study of ancient DNA from medieval northwestern Europeans reveals substantial increase of continental northern European ancestry in Britain, suggesting mass migration across the North Sea during the Early Middle Ages.

    • Joscha Gretzinger
    • Duncan Sayer
    • Stephan Schiffels
    ResearchOpen Access
    Nature
    Volume: 610, P: 112-119
  • Unprecedented floods and droughts bring new challenges for risk reduction, as is clear from this analysis of the drivers of changing impacts in many cases worldwide, with implications for efficient governance and investment in integrated management.

    • Heidi Kreibich
    • Anne F. Van Loon
    • Giuliano Di Baldassarre
    ResearchOpen Access
    Nature
    Volume: 608, P: 80-86