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Showing 1–50 of 233 results
Advanced filters: Author: Nicole M. Schmidt Clear advanced filters
  • 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
  • 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
  • Caroline Fox and colleagues report results of a large genome-wide association meta-analysis and replication study for indices of renal function. Their work identifies 13 new loci associated with renal function and 7 loci associated with creatinine production and secretion.

    • Anna Köttgen
    • Cristian Pattaro
    • Caroline S Fox
    Research
    Nature Genetics
    Volume: 42, P: 376-384
  • Microbes and viruses inhabit the subseafloor crust beneath hydrothermal vents. Here the authors show that vent endemic animals such as giant tubeworms also live in vent subseafloor cavities, implicating subseafloor dispersal of vent larvae and the need to protect seafloor and subseafloor vent habitats.

    • Monika Bright
    • Sabine Gollner
    • Alex Paris
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-9
  • Methylthio-alkane reductases are recently discovered enzymes that can produce methanethiol and small hydrocarbons from methylated sulfur compounds. Now the cryo-EM structure of a methylthio-alkane reductase complex is solved, revealing large metalloclusters previously observed only within nitrogenases.

    • Ana Lago-Maciel
    • Jéssica C. Soares
    • Johannes G. Rebelein
    ResearchOpen Access
    Nature Catalysis
    Volume: 8, P: 1086-1099
  • A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

    • Aniket Mishra
    • Rainer Malik
    • Stephanie Debette
    ResearchOpen Access
    Nature
    Volume: 611, P: 115-123
  • Climate-dependent chemical weathering is found to control the erodibility of bedrock-floored rivers across a rainfall gradient on the Kohala Peninsula, Hawai‘i; river erosion models that incorporate this process could improve the assessment of climatic controls from topographic data and the understanding of climatic feedbacks in landscape evolution models.

    • Brendan P. Murphy
    • Joel P. L. Johnson
    • Leonard S. Sklar
    Research
    Nature
    Volume: 532, P: 223-227
  • Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.

    • Anna Köttgen
    • Eva Albrecht
    • Christian Gieger
    Research
    Nature Genetics
    Volume: 45, P: 145-154
  • Spatial transcriptomic studies and lineage tracing reveal that, after brain injury, transient profibrotic fibroblasts develop from existing brain fibroblasts, infiltrate lesions, regulate the local immune response and lead to beneficial scar tissue formation.

    • Nathan A. Ewing-Crystal
    • Nicholas M. Mroz
    • Ari B. Molofsky
    ResearchOpen Access
    Nature
    Volume: 646, P: 934-944
  • A genome-wide study by the Long COVID Host Genetics Initiative identifies an association between the FOXP4 locus and long COVID, implicating altered lung function in its pathophysiology.

    • Vilma Lammi
    • Tomoko Nakanishi
    • Hanna M. Ollila
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 1402-1417
  • Genomic analyses of large population-based cohorts uncover the genetic determinants of perivascular space burden, an MRI marker of cerebral small vessel disease, across the lifespan, and reveal potential pathways implicated in the etiology of stroke and dementia.

    • Marie-Gabrielle Duperron
    • Maria J. Knol
    • Stéphanie Debette
    ResearchOpen Access
    Nature Medicine
    Volume: 29, P: 950-962
  • The role of autoantibodies in bullous pemphigoid (BP) and their impact on keratinocytes and the response to BP pathology remains underexplored. By leveraging transcriptomics analysis and large-scale protein assays, here the authors identify keratinocyte MyD88 as a regulator of the pro-inflammatory response in BP, uncovering the role of keratinocytes in this disease pathology.

    • Lei Bao
    • Christian F. Guerrero-Juarez
    • Kyle T. Amber
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18
  • Fair climate targets aligned with the Paris Agreement can be calculated in multiple ways, yielding diverse outcomes. Researchers unpack how equity, global strategies and political and social uncertainties shape fair share allocations, using them to assess nationally determined contributions and guide global climate finance.

    • Mark M. Dekker
    • Andries F. Hof
    • Detlef P. van Vuuren
    ResearchOpen Access
    Nature Climate Change
    Volume: 15, P: 752-759
  • HARE5, a human accelerated region enhancer, modulates cortical development by influencing neural progenitor cell behaviour, leading to an enlarged neocortex with increased functional independence between cortical regions through amplified WNT signalling.

    • Jing Liu
    • Federica Mosti
    • Debra L. Silver
    Research
    Nature
    Volume: 643, P: 1321-1332
  • Large language models are increasingly used for diverse tasks, yet we have limited insight into their understanding of chemistry. Now ChemBench—a benchmarking framework containing more than 2,700 question–answer pairs—has been developed to assess their chemical knowledge and reasoning, revealing that the best models surpass human chemists on average but struggle with some basic tasks.

    • Adrian Mirza
    • Nawaf Alampara
    • Kevin Maik Jablonka
    ResearchOpen Access
    Nature Chemistry
    Volume: 17, P: 1027-1034
  • Using a globally distributed standardized aerial sampling of fungal spores, we show that the hyperdiverse kingdom of fungi follows globally highly predictable spatial and temporal dynamics, with seasonality in both species richness and community composition increasing with latitude.

    • Nerea Abrego
    • Brendan Furneaux
    • Otso Ovaskainen
    ResearchOpen Access
    Nature
    Volume: 631, P: 835-842
  • 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
  • Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary trajectories.

    • Vinayak Bhandari
    • Constance H. Li
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-10
  • Competition for glutamine between type-1 conventional dendritic cells and tumour cells has a central role in tuning the anti-tumour immune response and in immune evasion by cancer cells.

    • Chuansheng Guo
    • Zhiyuan You
    • Hongbo Chi
    ResearchOpen Access
    Nature
    Volume: 620, P: 200-208
  • Magnetic palaeointensity data from the Barberton Greenstone Belt (South Africa) as well as the Jack Hills (Western Australia) show nearly constant palaeofield values between 3.9 Ga and 3.4 Ga, providing evidence for stagnant-lid mantle convection.

    • John A. Tarduno
    • Rory D. Cottrell
    • Gautam Mitra
    ResearchOpen Access
    Nature
    Volume: 618, P: 531-536
  • In this work, the authors study the immunological and virological effects of administering either wild-type anti-HIV-1 broadly neutralizing antibodies (bNAbs) or bNAbs with a mutation that increases binding to Fc-gamma receptors (FcγRs) to rhesus macaques in the acute phase of SHIVAD8-EO infection.

    • Joana Dias
    • Giulia Fabozzi
    • Richard A. Koup
    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
  • 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
  • With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

    • Matthew H. Bailey
    • William U. Meyerson
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-27
  • 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
  • Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

    • Claudia Calabrese
    • Natalie R. Davidson
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 129-136
  • Available enzymatic CO2 reduction strategies are not suitable for aerobic microorganisms and many industrial settings. Here, the authors design a new metabolic pathway that can operate under fully aerobic conditions, ambient CO2 levels, and seamlessly integrate with well-established C1-assimilation pathways.

    • Ari Satanowski
    • Daniel G. Marchal
    • Tobias J. Erb
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18
  • Krisai et al. compare brain structure and cognitive function in elderly patients with and without atrial fibrillation using brain MRI and cognitive testing. They find that atrial fibrillation is associated with more brain lesions and lower cognitive function, but the cognitive impairment occurs primarily through direct effects of the arrhythmia rather than through brain damage.

    • Philipp Krisai
    • Stefanie Aeschbacher
    • Nico Ruckstuhl
    ResearchOpen Access
    Communications Medicine
    Volume: 6, P: 1-10
  • 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
  • In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms.

    • Lina Sieverling
    • Chen Hong
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13
  • Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

    • Marc Zapatka
    • Ivan Borozan
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 320-330
  • 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
  • The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

    • Ludmil B. Alexandrov
    • Jaegil Kim
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 94-101
  • A global map of human subcellular architecture yields protein complex structures, reveals protein functions, identifies assemblies with multiple localizations or cell-type specificity and decodes paediatric cancer genomes.

    • Leah V. Schaffer
    • Mengzhou Hu
    • Trey Ideker
    ResearchOpen Access
    Nature
    Volume: 642, P: 222-231
  • 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
  • Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

    • Yilong Li
    • Nicola D. Roberts
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 112-121