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Showing 51–100 of 246 results
Advanced filters: Author: Evan Jeffrey Clear advanced filters
  • The genome of the gibbon, a tree-dwelling ape from Asia positioned between Old World monkeys and the great apes, is presented, providing insights into the evolutionary history of gibbon species and their accelerated karyotypes, as well as evidence for selection of genes such as those for forelimb development and connective tissue that may be important for locomotion through trees.

    • Lucia Carbone
    • R. Alan Harris
    • Richard A. Gibbs
    ResearchOpen Access
    Nature
    Volume: 513, P: 195-201
  • Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.

    • Sahar Gelfman
    • Arden Moscati
    • Giovanni Coppola
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • Genome-wide analyses identify variants associated with sinus node dysfunction, distal conduction disease and pacemaker implantation, implicating ion channel function, cardiac developmental programs and sarcomeric structure in bradyarrhythmia susceptibility.

    • Lu-Chen Weng
    • Joel T. Rämö
    • Steven A. Lubitz
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 53-64
  • 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
  • Stroke is a multifactorial disease influenced by genetic and environmental factors. Here, the authors apply exome-wide association analysis to find rare coding variants associated with stroke in a Pakistani cohort, finding a significant association of a variant in NOTCH3 that is highly enriched in South Asians.

    • Juan Lorenzo Rodriguez-Flores
    • Shareef Khalid
    • Danish Saleheen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14
  • An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.

    • Veera M. Rajagopal
    • Kyoko Watanabe
    • Giovanni Coppola
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1138-1148
  • The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

    • Moez Dawood
    • Ben Heavner
    • Gabrielle C. Villard
    Reviews
    Nature
    Volume: 647, P: 331-342
  • Increased susceptibility to gastrointestinal infections and colitis can be driven by a failure to maintain intestinal homeostasis. Here, using a forward genetic screen, Song et al. identify and characterise the role of TVP23B in Paneth cell and goblet cell function, and its impact on colitis.

    • Ran Song
    • William McAlpine
    • Emre E. Turer
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • Chimeric antigen receptor (CAR) T cells engineered to overexpress the canonical AP-1 transcription factor c-Jun are resistant to T cell exhaustion, and provide enhanced therapeutic benefit in mouse tumour models.

    • Rachel C. Lynn
    • Evan W. Weber
    • Crystal L. Mackall
    Research
    Nature
    Volume: 576, P: 293-300
  • Comprehensive integration of gene expression with epigenetic features is needed to understand the transition of kidney cells from health to injury. Here, the authors integrate dual single nucleus RNA expression and chromatin accessibility, DNA methylation, and histone modifications to decipher the chromatin landscape of the kidney in reference and adaptive injury cell states, identifying a transcription factor network of ELF3, KLF6, and KLF10 which regulates adaptive repair and maladaptive failed repair.

    • Debora L. Gisch
    • Michelle Brennan
    • Michael T. Eadon
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-21
  • Hypoxic brain damage associated with premature birth causes lasting neurological impairments. Here, the authors use environmental enrichment to rescue white matter dysmaturation following hypoxia, while identifying a critical window of intervention and oligodendrocyte-specific changes in gene expression.

    • Thomas A. Forbes
    • Evan Z. Goldstein
    • Vittorio Gallo
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-17
  • This study examines the differential rates of lightning damage and mortality among tree species across a tropical forest in Panama, finding differences in species tolerance to lightning with implications for how lightning shapes forest composition and ecosystem function.

    • Jeannine H. Richards
    • Evan M. Gora
    • Stephen P. Yanoviak
    Research
    Nature Plants
    Volume: 8, P: 1007-1013
  • Federated ML (FL) provides an alternative to train accurate and generalizable ML models, by only sharing numerical model updates. Here, the authors present the largest FL study to-date to generate an automatic tumor boundary detector for glioblastoma.

    • Sarthak Pati
    • Ujjwal Baid
    • Spyridon Bakas
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-17
  • The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

    • Peter H. Sudmant
    • Tobias Rausch
    • Jan O. Korbel
    ResearchOpen Access
    Nature
    Volume: 526, P: 75-81
  • TiO2 and other metal oxides were interfaced with molecular boron clusters to form a hybrid material. This modifies the electrochemical and photocatalytic properties, enabling fast electron transfer and dye degradation under red light.

    • Dahee Jung
    • Liban M. A. Saleh
    • Alexander M. Spokoyny
    Research
    Nature Materials
    Volume: 17, P: 341-348
  • Sequencing of the bonobo genome shows that more than three per cent of the human genome is more closely related to either the bonobo genome or the chimpanzee genome than those genomes are to each other.

    • Kay Prüfer
    • Kasper Munch
    • Svante Pääbo
    ResearchOpen Access
    Nature
    Volume: 486, P: 527-531
  • A comparative segmental duplication map of four primate genomes that allows the evolutionary history of all human segmental duplications to be reconstructed is presented. It reveals a fourfold acceleration of segmental duplication accumulation during the speciation of human, chimpanzee and gorilla at a time when other mutational processes were slowing, and also provides a detailed evolutionary history of all human segmental duplications as a resource to the human genetics community.

    • Tomas Marques-Bonet
    • Jeffrey M. Kidd
    • Evan E. Eichler
    Research
    Nature
    Volume: 457, P: 877-881
  • Using single-cell imaging of the cyanobacterium Synechococcus, the authors show that confinement or mechanical perturbations result in altered photosynthetic activity.

    • Kristin A. Moore
    • Sabina Altus
    • Jeffrey C. Cameron
    Research
    Nature Microbiology
    Volume: 5, P: 757-767
  • Here, using clinical samples and autopsy tissues, the authors combine fast-colorimetric test (LAMP) for SARS-CoV-2 infection and large-scale shotgun metatranscriptomics for host, viral, and microbial profiling and provide a map of the viral genetic features of the New York City outbreak and associate specific host responses and gene expression perturbations with SARS-CoV-2 infection.

    • Daniel Butler
    • Christopher Mozsary
    • Christopher E. Mason
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-17
  • Gene expression noise can reduce fitness but analysis is hampered by a scaling relationship between noise and expression level. Here the authors show that gene expression mean and noise can be independently controlled by expressing two copies of a gene from separate inducible promoters in the same cell.

    • Karl P. Gerhardt
    • Satyajit D. Rao
    • Jeffrey J. Tabor
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10
  • Durable agonism of NPR1 achieved with a novel investigational monoclonal antibody could mirror the positive hemodynamic changes in blood pressure and heart failure identified in humans with lifelong exposure to NPR1 coding variants.

    • Michael E. Dunn
    • Aaron Kithcart
    • Lori Morton
    ResearchOpen Access
    Nature
    Volume: 633, P: 654-661
  • This study finds that sST2 is a disease-causing factor for Alzheimer’s disease. Higher sST2 levels impair microglial Aβ clearance in APOE4+ female individuals. A genetic variant, rs1921622, is associated with a reduction in sST2 level and protects against AD in APOE4+ female individuals.

    • Yuanbing Jiang
    • Xiaopu Zhou
    • Nancy Y. Ip
    ResearchOpen Access
    Nature Aging
    Volume: 2, P: 616-634
  • The interplay between amyloid and tau pathology in Alzheimer’s disease is still not well understood. Here, the authors show that amyloid-related increased in soluble p-tau is related to subsequent accumulation of tau aggregates and cognitive decline in early stage of the disease.

    • Alexa Pichet Binette
    • Nicolai Franzmeier
    • Oskar Hansson
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16
  • Two Prevotella copri metagenome-assembled genomes that are positively associated with ponderal growth are the principal contributors to MDCF-2-induced expression of metabolic pathways involved in utilizing the component glycans of MDCF-2—a microbiome-directed complementary food.

    • Matthew C. Hibberd
    • Daniel M. Webber
    • Jeffrey I. Gordon
    ResearchOpen Access
    Nature
    Volume: 625, P: 157-165
  • Physical realizations of qubits are often vulnerable to leakage errors, where the system ends up outside the basis used to store quantum information. A leakage removal protocol can suppress the impact of leakage on quantum error-correcting codes.

    • Kevin C. Miao
    • Matt McEwen
    • Yu Chen
    ResearchOpen Access
    Nature Physics
    Volume: 19, P: 1780-1786
  • Ferrosome organelles produced by Clostridioides difficile are required to support colonization of the inflamed gut, highlighting the potential of targeting ferrosome formation as an antimicrobial strategy against this important pathogen.

    • Hualiang Pi
    • Rong Sun
    • Eric P. Skaar
    Research
    Nature
    Volume: 623, P: 1009-1016
  • The results obtained by seventy different teams analysing the same functional magnetic resonance imaging dataset show substantial variation, highlighting the influence of analytical choices and the importance of sharing workflows publicly and performing multiple analyses.

    • Rotem Botvinik-Nezer
    • Felix Holzmeister
    • Tom Schonberg
    Research
    Nature
    Volume: 582, P: 84-88
  • Here, a cross of Plasmodium vivax malaria parasites links a chloroquine resistance (CQR) phenotype to a 76 kb region of chromosome 1 and greater expression of pvcrt, an ortholog of the Plasmodium falciparum CQR transporter gene.

    • Juliana M. Sá
    • Sarah R. Kaslow
    • Thomas E. Wellems
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10
  • In Alzheimer’s disease (AD) tau and neurodegeneration have complex regional relationships. Here, the authors show neuronal hypometabolism discordant with tau burden defines functional resilience or susceptibility to Alzheimer’s pathology via limbic/cortical axes. Susceptible groups have faster cognitive decline and evidence of non-Alzheimer’s pathologies.

    • Michael Tran Duong
    • Sandhitsu R. Das
    • Ilya M. Nasrallah
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15
  • Alzheimer’s disease is heterogeneous in its neuroimaging and clinical phenotypes. Here the authors present a semi-supervised deep learning method, Smile-GAN, to show four neurodegenerative patterns and two progression pathways providing prognostic and clinical information.

    • Zhijian Yang
    • Ilya M. Nasrallah
    • Balebail Ashok Raj
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-15
  • Circulating liver enzymes, like alanine aminotransferase (ALT) and aspartate aminotransferase (AST), are highly heritable and predictive of disease. Here, the authors perform a genome-wide association study on ALT and AST, revealing a rare variant in SLC30A10 associated with elevated ALT and AST.

    • Lucas D. Ward
    • Ho-Chou Tu
    • Paul Nioi
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14
  • Alzheimer’s disease has been associated with increased structural brain aging. Here the authors describe a model that predicts brain aging from resting state functional connectivity data, and demonstrate this is accelerated in individuals with pre-clinical familial Alzheimer’s disease.

    • Julie Gonneaud
    • Alex T. Baria
    • Etienne Vachon-Presseau
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-17
  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073
  • Whole-exome sequencing in a large autism study identifies over 100 autosomal genes that are likely to affect risk for the disorder; these genes, which show unusual evolutionary constraint against mutations, carry de novo loss-of-function mutations in over 5% of autistic subjects and many function in synaptic, transcriptional and chromatin-remodelling pathways.

    • Silvia De Rubeis
    • Xin He
    • Joseph D. Buxbaum
    Research
    Nature
    Volume: 515, P: 209-215
  • The BIN1 SNP rs744373 is associated with higher CSF tau and phosphorylated tau levels. Here the authors show, using PET imaging, that this SNP is associated with tau accumulation in the brain as well as impaired memory in older individuals without dementia.

    • Nicolai Franzmeier
    • Anna Rubinski
    • Ansgar J. Furst
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-12
  • Histone H3-mutant gliomas are deadly brain tumours and the tumour microenvironment is not fully understood. Here the authors profile the immune microenvironment from human samples and mouse models and implicate myeloid cells in immune suppression and show inhibition of myeloid cells and checkpoint blockade demonstrates therapeutic benefits in mice.

    • Augusto Faria Andrade
    • Alva Annett
    • Nada Jabado
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17