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Showing 1–50 of 65 results
Advanced filters: Author: Amy H-T Lin Clear advanced filters
  • A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

    • Sarah E. Graham
    • Shoa L. Clarke
    • Cristen J. Willer
    Research
    Nature
    Volume: 600, P: 675-679
  • MicroRNAs are small RNAs involved in regulation of cognate mRNAs, but predicting their exact targets has been difficult. Using a cross-linking immunoprecipitation technique, a comprehensive examination of endogenous mRNA target sites associated with the C. elegans Argonaute family member ALG-1 is now presented.

    • Dimitrios G Zisoulis
    • Michael T Lovci
    • Gene W Yeo
    Research
    Nature Structural & Molecular Biology
    Volume: 17, P: 173-179
  • Genome-wide association studies (GWAS) have improved our understanding of the genetic basis of lung adenocarcinoma but known susceptibility variants explain only a small fraction of the familial risk. Here, the authors perform a two-stage GWAS and report 12 novel genetic loci associated with lung adenocarcinoma in East Asians.

    • Jianxin Shi
    • Kouya Shiraishi
    • Qing Lan
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-17
  • 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
  • Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.

    • Zhe Wang
    • Andrew Emmerich
    • Marcel den Hoed
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 1332-1344
  • Using the GTEx data and others, a comprehensive analysis of adenosine-to-inosine RNA editing in mammals is presented; targets of the various ADAR enzymes are identified, as are several potential regulators of editing, such as AIMP2.

    • Meng How Tan
    • Qin Li
    • Jin Billy Li
    Research
    Nature
    Volume: 550, P: 249-254
  • Combined patch clamp recording, biocytin staining and single-cell RNA-sequencing of human neurocortical neurons shows an expansion of glutamatergic neuron types relative to mouse that characterizes the greater complexity of the human neocortex.

    • Jim Berg
    • Staci A. Sorensen
    • Ed S. Lein
    ResearchOpen Access
    Nature
    Volume: 598, P: 151-158
  • Here, the authors compared measurements between 34 laboratories from 19 countries, to quantify by mass spectrometry four ceramides of clinical relevance in human blood plasma Standard Reference Materials. The main goals were to evaluate concordance obtained in a large inter-laboratory trial and to report absolute concentrations of four circulating lipids in a publicly available standard.

    • Federico Torta
    • Nils Hoffmann
    • Markus R. Wenk
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15
  • GWAS have identified more than 500 genetic loci associated with blood lipid levels. Here, the authors report a genome-wide analysis of interactions between genetic markers and physical activity, and find that physical activity modifies the effects of four genetic loci on HDL or LDL cholesterol.

    • Tuomas O. Kilpeläinen
    • Amy R. Bentley
    • Ruth J. F. Loos
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11
  • Analyses of samples from patients with acute myeloid leukaemia reveal that drug response is associated with mutational status and gene expression; the generated dataset provides a basis for future clinical and functional studies of this disease.

    • Jeffrey W. Tyner
    • Cristina E. Tognon
    • Brian J. Druker
    Research
    Nature
    Volume: 562, P: 526-531
  • Here, Chen et. al. characterize the relationship between the gut microbiota and plasma metabolite changes in the context of ST-elevation myocardial infarction (STEMI), unveiling a role of butyrate-producing bacteria and their ketogenesis in post-STEMI cardiac repair, a finding validated in nonhuman primate and mouse models. They show that butyrate supplementation reduces myocardial infarction severity in mice, underscoring the significance of butyrate-producing bacteria and beta-hydroxybutyrate in improving post-MI outcomes.

    • Hung-Chih Chen
    • Yen-Wen Liu
    • Patrick C. H. Hsieh
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-16
  • High levels of extended spectrum beta-lactamase (ESBL) and carbapenemase encoding genes were detected in bacterial isolates causing neonatal sepsis in LMICs. Authors assess the in vitro activity of three antibiotics (fosfomycin, flomoxef and amikacin) in combination against ESBL-producing Klebsiella pneumoniae and Escherichia coli isolates.

    • Biljana Kakaraskoska Boceska
    • Tuba Vilken
    • Herman Goossens
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-12
  • Solid organ transplant recipients are at increased risk of infectious disease and have unique molecular pathophysiology. Here the authors use host-microbe profiling to assess SARS-CoV-2 infection and immunity in solid organ transplant recipients, showing enhanced viral abundance, impaired clearance, and increased expression of innate immunity genes.

    • Harry Pickering
    • Joanna Schaenman
    • Charles R. Langelier
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16
  • The authors summarize the data produced by phase III of the Encyclopedia of DNA Elements (ENCODE) project, a resource for better understanding of the human and mouse genomes.

    • Federico Abascal
    • Reyes Acosta
    • Zhiping Weng
    ResearchOpen Access
    Nature
    Volume: 583, P: 699-710
  • Synthetic chimeric orthogonal IL-2 receptors that incorporate the intracellular domain of receptors for other γ-chain cytokines such as IL-9 can reroute orthogonal signalling and alter the phenotype of T cells to improve anti-tumour responses.

    • Anusha Kalbasi
    • Mikko Siurala
    • K. Christopher Garcia
    ResearchOpen Access
    Nature
    Volume: 607, P: 360-365
  • Developmental and epileptic encephalopathies are devastating neurological disorders. Here, the authors establish a cohort of patients with variants in the gene DENND5A and use human stem cells to discover a disease mechanism involving altered cell division.

    • Emily Banks
    • Vincent Francis
    • Peter S. McPherson
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-22
  • Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking. Here, the authors evaluated mutational signatures that could distinguish MUTYH carriers in large CRC cohorts, and found MUTYH-associated somatic mutations.

    • Peter Georgeson
    • Tabitha A. Harrison
    • Daniel D. Buchanan
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-12
  • In this study, the authors provide a global overview of SARS-CoV-2 genome sequencing, and estimate the proportion of cases sequenced and time to genome upload. They identify disparities and highlight the need to strengthen surveillance in lower and middle income countries.

    • Anderson F. Brito
    • Elizaveta Semenova
    • Nuno R. Faria
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-13
  • Sequencing data from two large-scale studies show that most of the genetic variation influencing the risk of type 2 diabetes involves common alleles and is found in regions previously identified by genome-wide association studies, clarifying the genetic architecture of this disease.

    • Christian Fuchsberger
    • Jason Flannick
    • Mark I. McCarthy
    Research
    Nature
    Volume: 536, P: 41-47
  • Circulating tumour DNA profiling in early-stage non-small-cell lung cancer can be used to track single-nucleotide variants in plasma to predict lung cancer relapse and identify tumour subclones involved in the metastatic process.

    • Christopher Abbosh
    • Nicolai J. Birkbak
    • Charles Swanton
    Research
    Nature
    Volume: 545, P: 446-451
  • The BRAIN Initiative Cell Census Network has constructed a multimodal cell census and atlas of the mammalian primary motor cortex in a landmark effort towards understanding brain cell-type diversity, neural circuit organization and brain function.

    • Edward M. Callaway
    • Hong-Wei Dong
    • Susan Sunkin
    ResearchOpen Access
    Nature
    Volume: 598, P: 86-102
  • A spatially resolved transcriptional atlas of the mid-gestational developing human brain has been created using laser-capture microdissection and microarray technology, providing a comprehensive reference resource which also enables new hypotheses about the nature of human brain evolution and the origins of neurodevelopmental disorders.

    • Jeremy A. Miller
    • Song-Lin Ding
    • Ed S. Lein
    Research
    Nature
    Volume: 508, P: 199-206
  • Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

    • Hanna M. Ollila
    • Eilon Sharon
    • Emmanuel J. Mignot
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • The role of IgG glycosylation in the immune response has been studied, but less is known about IgM glycosylation. Here the authors characterize glycosylation of SARS-CoV-2 spike specific IgM and show that it correlates with COVID-19 severity and affects complement deposition.

    • Benjamin S. Haslund-Gourley
    • Kyra Woloszczuk
    • Mary Ann Comunale
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-19
  • Prostate cancer (PrCa) involves a large heritable genetic component. Here, the authors perform multivariate fine-mapping of known PrCa GWAS loci, identifying variants enriched for biological function, explaining more familial relative risk, and with potential application in clinical risk profiling.

    • Tokhir Dadaev
    • Edward J. Saunders
    • Zsofia Kote-Jarai
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-19
  • Post-acute sequelae of SARS-CoV-2 (PASC) is still not well understood. Here the authors provide patient reported outcomes from 590 hospitalized COVID-19 patients and show association of PASC with higher respiratory SARS-CoV-2 load and circulating antibody titers, and in some an elevation in circulating fibroblast growth factor 21.

    • Al Ozonoff
    • Naresh Doni Jayavelu
    • Nadine Rouphael
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17
  • Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 11 loci of which ten had not been previously reported.

    • Sonia Shah
    • Albert Henry
    • R. Thomas Lumbers
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • An examination of motor cortex in humans, marmosets and mice reveals a generally conserved cellular makeup that is likely to extend to many mammalian species, but also differences in gene expression, DNA methylation and chromatin state that lead to species-dependent specializations.

    • Trygve E. Bakken
    • Nikolas L. Jorstad
    • Ed S. Lein
    ResearchOpen Access
    Nature
    Volume: 598, P: 111-119
  • RNA-sequencing analysis of cells in the human cortex enabled identification of diverse cell types, revealing well-conserved architecture and homologous cell types as well as extensive differences when compared with datasets covering the analogous region of the mouse brain.

    • Rebecca D. Hodge
    • Trygve E. Bakken
    • Ed S. Lein
    Research
    Nature
    Volume: 573, P: 61-68
  • Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in other great ape species. Their analyses suggest that the H2 configuration represents the ancestral state in great apes and that inversions have occurred independently in the human and chimpanzee lineages.

    • Michael C Zody
    • Zhaoshi Jiang
    • Evan E Eichler
    Research
    Nature Genetics
    Volume: 40, P: 1076-1083
  • Perou and colleagues perform genomic, transcriptomic and epigenetic analyses on pairs of primary and metastatic breast tumors, detecting subtype switching and changes in immune signatures and DNA methylation patterns associated with metastasis.

    • Susana Garcia-Recio
    • Toshinori Hinoue
    • Charles M. Perou
    ResearchOpen Access
    Nature Cancer
    Volume: 4, P: 128-147
  • Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2, ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and provide additional evidence that the microglia-mediated immune response contributes to the development of Alzheimer's disease.

    • Rebecca Sims
    • Sven J van der Lee
    • Gerard D Schellenberg
    Research
    Nature Genetics
    Volume: 49, P: 1373-1384
  • Two red fluorescent proteins with long Stokes shift enable simultaneous multicolor 2p imaging. CyRFP1 is well-suited for 2p structural imaging, and FRET sensors made with mCyRFP1 and mMaroon1enable multicolor 2pFLIM in brain slices. Also online, a paper by Bajar et al. reports the development of mMaroon1.

    • Tal Laviv
    • Benjamin B Kim
    • Ryohei Yasuda
    Research
    Nature Methods
    Volume: 13, P: 989-992
  • Cristen Willer and colleagues report genome-wide association analyses for blood lipid levels in 188,578 individuals. They identify 62 loci newly associated with blood lipid levels, refine the association signals at 12 loci and examine associations with cardiovascular and metabolic traits.

    • Cristen J Willer
    • Ellen M Schmidt
    • Gonçalo R Abecasis
    Research
    Nature Genetics
    Volume: 45, P: 1274-1283