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Showing 1–50 of 75 results
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  • 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
    Volume: 17, P: 1-17
  • Gravitational wave background offers insights into supermassive black hole binaries. Here, authors refine noise models in pulsar timing data to better understand the nanohertz gravitational wave background and find support to a population of slowly inspiraling binaries in circular orbits as its source.

    • Boris Goncharov
    • Shubhit Sardana
    • Serena Valtolina
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-8
  • Adult neurogenesis is a unique form of neuronal plasticity, involving the genesis and integration of newborn neurons into the mouse dentate gyrus. Here the authors demonstrate that adult neurogenesis improves representations of space in the dentate gyrus by increasing the place-specific responses of mature neurons.

    • M. Agustina Frechou
    • Sunaina S. Martin
    • J. Tiago Gonçalves
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-14
  • Existing single-particle tracking techniques are limited in terms of penetration depth, tracking range or temporal resolution. Here, Perilloet al. demonstrate three-dimensional particle tracking up to 200-μm depth, with 35-nm spatial localization and 50-μs resolution using multiplexed two-photon excitation.

    • Evan P. Perillo
    • Yen-Liang Liu
    • Andrew K. Dunn
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-8
  • A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

    • Kathie Y. Sun
    • Xiaodong Bai
    • Suganthi Balasubramanian
    ResearchOpen Access
    Nature
    Volume: 631, P: 583-592
  • The surface charge and ζ-potential of biomolecular condensates is key to their interactions with membranes and proteins. Here, the authors developed a method to determine the ζ-potential of condensates using microelectrophoresis and single-droplet tracking.

    • Merlijn H. I. van Haren
    • Brent S. Visser
    • Evan Spruijt
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-10
  • Researchers exploit atomic quantum state control in a fully integrated photonic atomic spectroscopy chip to reduce the group velocity of light by a factor of 1,200 — the lowest group velocity ever reported for a solid-state material. The findings will enable the creation of on-chip nonlinear optical devices with enhanced quantum coherence operating at ultralow power levels.

    • Bin Wu
    • John F. Hulbert
    • Holger Schmidt
    Research
    Nature Photonics
    Volume: 4, P: 776-779
  • The authors present a molecular classification of acute leukemia using 5-methylcytosine signatures, together with a neural network-based classifier for clinical use.

    • Til L. Steinicke
    • Salvatore Benfatto
    • Volker Hovestadt
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 2456-2467
  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74
  • This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • David M. Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 491, P: 56-65
  • 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
  • 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
  • 1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

    • Olivier Delaneau
    • Jonathan Marchini
    • Leena Peltonenz
    Research
    Nature Communications
    Volume: 5, P: 1-9
  • Developing noninvasive diagnostic biomarkers for lupus nephritis (LN) diagnosis is an important clinical goal. Here the authors identify urinary proteins correlated with active LN and disease severity, which differ across ethnicities but collectively outperform the current clinical method.

    • Samantha Stanley
    • Kamala Vanarsa
    • Chandra Mohan
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13
  • In this study the authors identify a possible link between the gene FAM222A and brain atrophy. The protein it encodes is found to accumulate in plaques seen in Alzheimer’s disease, and functional analysis suggests it interacts with amyloid-beta.

    • Tingxiang Yan
    • Jingjing Liang
    • Xinglong Wang
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16
  • Family-based exome sequencing in a large autism study has identified 27 high-confidence gene targets and accurately estimates the contribution of both de novo gene-disrupting and missense mutations to the incidence of simplex autism, with target genes in affected females overlapping those in males of lower but not higher IQ; targets also overlap known targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes.

    • Ivan Iossifov
    • Brian J. O’Roak
    • Michael Wigler
    Research
    Nature
    Volume: 515, P: 216-221
  • 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
  • Harnessing information from whole genome sequencing in 185 individuals, this study generates a high-resolution map of copy number variants. Nucleotide resolution of the map facilitates analysis of structural variant distribution and identification of the mechanisms of their origin. The study provides a resource for sequence-based association studies.

    • Ryan E. Mills
    • Klaudia Walter
    • Jan O. Korbel
    Research
    Nature
    Volume: 470, P: 59-65
  • Brain-iron elevation is implicated in Alzheimer’s disease (AD), but the impact of the metal on disease outcomes has not been analysed in a longitudinal study. Here, the authors examine the association between the levels of ferritin, an iron storage protein, in the cerebrospinal fluid (CSF) of AD patients and show that CSF ferritin levels predict AD outcomes.

    • Scott Ayton
    • Noel G. Faux
    • Ansgar J. Furst
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9
  • Ruthenium oxide has attracted recent interest as a non-superconducting material where superconductivity can be induced by epitaxial strain. Here, the authors explore strained (100)-oriented RuO2 films on TiO2(100) substrate and reveal strain-induced superconductivity similarly to strained RuO2(110) films, providing insights into the thickness-dependence and electronic structure mechanisms of superconductivity.

    • Neha Wadehra
    • Benjamin Z. Gregory
    • Darrell G. Schlom
    ResearchOpen Access
    Communications Materials
    Volume: 6, P: 1-9
  • Biomolecular condensates help organize cell components under normal conditions but can also be involved in pathological protein aggregation when condensate proteins carry mutations or under stress conditions. This Review discusses the possible mechanisms behind such aggregation processes that potentially lead to neurodegenerative diseases.

    • Brent S. Visser
    • Wojciech P. Lipiński
    • Evan Spruijt
    Reviews
    Nature Reviews Chemistry
    Volume: 8, P: 686-700
  • The Mouse ENCODE Consortium has mapped transcription, DNase I hypersensitivity, transcription factor binding, chromatin modifications and replication domains throughout the mouse genome in diverse cell and tissue types; these data were compared with those from human to confirm substantial conservation in the newly annotated potential functional sequences and to reveal pronounced divergence of other sequences involved in transcriptional regulation, chromatin state and higher order chromatin organization.

    • Feng Yue
    • Yong Cheng
    • Bing Ren
    ResearchOpen Access
    Nature
    Volume: 515, P: 355-364
  • The Cancer Genome Atlas presents an integrative genome-wide analysis of genetic alterations in 279 head and neck squamous cell carcinomas (HNSCCs), which are classified by human papillomavirus (HPV) status; alterations in EGFR, FGFR, PIK3CA and cyclin-dependent kinases are shown to represent candidate targets for therapeutic intervention in most HNSCCs.

    • Michael S. Lawrence
    • Carrie Sougnez
    • Wendell G. Yarbrough
    ResearchOpen Access
    Nature
    Volume: 517, P: 576-582
  • An international group of chemical biologists convened in San Francisco to present the latest scientific findings, discuss future directions and be inspired by research at the interface of chemistry and biology. This report on the third annual conference of the International Chemical Biology Society provides a brief overview of the meeting and its scientific program.

    • Evan W Miller
    News & Views
    Nature Chemical Biology
    Volume: 11, P: 91-95
  • 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
  • Whether Alzheimer’s disease originates in basal forebrain or entorhinal cortex remains highly debated. Here the authors use structural magnetic resonance data from a longitudinal sample of participants stratified by cerebrospinal biomarker and clinical diagnosis to show that tissue volume changes appear earlier in the basal forebrain than in the entorhinal cortex.

    • Taylor W. Schmitz
    • R. Nathan Spreng
    • Ansgar J. Furst
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-13
  • Late-onset Alzheimer's disease (LOAD) is a complex multi-factorial disorder. Here, the authors perform a data-driven analysis of LOAD progression, including multimodal brain imaging, plasma and CSF biomarkers, and find vascular dysfunction is among the earliest and strongest altered events.

    • Y. Iturria-Medina
    • R. C. Sotero
    • Ansgar J. Furst
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-14
  • Several studies show that APOE-ε4 coding variants are associated with Alzheimer’s disease (AD) risk. Here, Zhou et al. perform fine-mapping of the APOE region and find AD risk haplotypes with non-coding variants in the PVRL2 and APOC1 regions that are associated with relevant endophenotypes.

    • Xiaopu Zhou
    • Yu Chen
    • Nancy Y. Ip
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16
  • Progressive diseases tend to be heterogeneous in their underlying aetiology mechanism, disease manifestation, and disease time course. Here, Young and colleagues devise a computational method to account for both phenotypic heterogeneity and temporal heterogeneity, and demonstrate it using two neurodegenerative disease cohorts.

    • Alexandra L Young
    • Razvan V Marinescu
    • Ansgar J Furst
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-16