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Showing 51–100 of 221 results
Advanced filters: Author: James Downing Clear advanced filters
    • JAMES B. BOSKEY
    Correspondence
    Nature
    Volume: 315, P: 176
  • This paper reports the identification of high-frequency deletions in the Ikaros gene in acute lymphoblastic leukaemia cases that are characterized by BCR-ABL1 translocations. In contrast, BCR-ABL1 CML is not associated with Ikaros deletions in chronic phase patients, but are often acquired during progression to blast crisis. These deletions lead to expression of altered transcripts. In contrast to previous models suggesting that these transcripts result from aberrant alternative splicing, it is shown that the deletions found are due to aberrant RAG-mediated recombination.

    • Charles G. Mullighan
    • Christopher B. Miller
    • James R. Downing
    Research
    Nature
    Volume: 453, P: 110-114
  • At least two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of nuclear factor-κB (NF-κB) signalling, and uncharacterized gene C11orf95; C11orf95–RELA fusion proteins translocate spontaneously to the nucleus to activate NF-κB target genes, and rapidly transform neural stem cells to form tumours in mice

    • Matthew Parker
    • Kumarasamypet M. Mohankumar
    • Richard J. Gilbertson
    Research
    Nature
    Volume: 506, P: 451-455
  • The retinoblastoma genome is shown to be stable, but multiple cancer pathways are identified that are epigenetically deregulated, providing potential new therapeutic targets.

    • Jinghui Zhang
    • Claudia A. Benavente
    • Michael A. Dyer
    ResearchOpen Access
    Nature
    Volume: 481, P: 329-334
  • Larval dispersal of clownfish and butterflyfish across a 10,000 km2 area was tracked over 2 years, a large enough scale to inform the design of marine reserve networks and test their performance.

    • Glenn R. Almany
    • Serge Planes
    • Geoffrey P. Jones
    Research
    Nature Ecology & Evolution
    Volume: 1, P: 1-7
  • The FANCM helicase functions in limiting crossovers (COs) by unwinding inter-homolog repair intermediates. Here, the authors generate null mutants of fancm in tetraploid and hexaploid wheat and show that FANCM promotes class I interfering COs and suppresses class II noninterfering COs in wheat meiosis.

    • Stuart D. Desjardins
    • James Simmonds
    • James D. Higgins
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-12
  • A genomic and transcriptomic analysis of 2,754 childhood acute lymphoblastic leukemias identifies 376 putative driver genes, and associations between disease subtypes and prognosis.

    • Samuel W. Brady
    • Kathryn G. Roberts
    • Charles G. Mullighan
    Research
    Nature Genetics
    Volume: 54, P: 1376-1389
  • A large-scale genomics study shows that the cell of origin and founding mutations determine disease subtype and lead to the expression of multiple haematopoietic lineage-defining antigens in mixed phenotype acute leukaemia.

    • Thomas B. Alexander
    • Zhaohui Gu
    • Charles G. Mullighan
    Research
    Nature
    Volume: 562, P: 373-379
  • Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, causing a p.Lys27Met amino acid substitution in each protein.

    • Gang Wu
    • Alberto Broniscer
    • Suzanne J Baker
    Research
    Nature Genetics
    Volume: 44, P: 251-253
  • Most of the archaeological record of the Middle to Later Stone Age transition comes from southern Africa. Here, Shipton et al. describe the new site Panga ya Saidi on the coast of Kenya that covers the last 78,000 years and shows gradual cultural and technological change in the Late Pleistocene.

    • Ceri Shipton
    • Patrick Roberts
    • Nicole Boivin
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-8
  • The evolution and systematics of Madagascar’s extinct elephant birds remains unclear. Here, the authors recover genetic, stable isotope, morphological, and geographic data from fossil eggshell to describe variation among clades, identifying cryptic diversity and potential drivers of speciation.

    • Alicia Grealy
    • Gifford H. Miller
    • Michael Bunce
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-14
  • Genetic heterogeneity and clonal evolution contribute to cancer progression. Here Ma et al.use deep whole-exome sequencing to identify recurrently mutated pathways and clonal architecture in pediatric acute lymphoblastic leukaemia, shedding light on the evolutionary trajectory from diagnosis to relapse

    • Xiaotu Ma
    • Michael Edmonson
    • Jinghui Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-12
  • Whole-genome sequencing of medulloblastoma samples reveals several recurrent mutations in genes not previously implicated in the disease, many of which affect components of the epigenetic machinery in different disease subgroups.

    • Giles Robinson
    • Matthew Parker
    • Richard J. Gilbertson
    ResearchOpen Access
    Nature
    Volume: 488, P: 43-48
  • Charles Mullighan, Jinghui Zhang and colleagues characterize a subtype of B-progenitor acute lymphoblastic leukemia with deregulated DUX4 and ERG. They find that aberrant DUX4 activation results in loss of ERG function, either through deletion or by the induction a novel transforming ERG isoform, ERGalt, that inhibits wild-type ERG activity.

    • Jinghui Zhang
    • Kelly McCastlain
    • Charles G Mullighan
    Research
    Nature Genetics
    Volume: 48, P: 1481-1489
  • Genomic analysis of neuroblastoma has revealed important disease etiology. In this study, the authors assembled whole genome, exome and transcriptome data from over 700 neuroblastomas and identified molecular signatures correlated with age, and rare, potentially targetable variants overlooked in smaller cohorts.

    • Samuel W. Brady
    • Yanling Liu
    • Jinghui Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13
  • The realization that the cell is abundantly compartmentalized into biomolecular condensates has opened new opportunities for understanding the physics and chemistry underlying many cellular processes1, fundamentally changing the study of biology2. The term biomolecular condensate refers to non-stoichiometric assemblies that are composed of multiple types of macromolecules in cells, occur through phase transitions, and can be investigated by using concepts from soft matter physics3. As such, they are intimately related to aqueous two-phase systems4 and water-in-water emulsions5. Condensates possess tunable emergent properties such as interfaces, interfacial tension, viscoelasticity, network structure, dielectric permittivity, and sometimes interphase pH gradients and electric potentials614. They can form spontaneously in response to specific cellular conditions or to active processes, and cells appear to have mechanisms to control their size and location1517. Importantly, in contrast to membrane-enclosed organelles such as mitochondria or peroxisomes, condensates do not require the presence of a surrounding membrane.

    • Simon Alberti
    • Paolo Arosio
    • Tanja Mittag
    Comments & OpinionOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • Artificial evolution implements the rules of natural evolution in algorithms that aim to solve biological and computational problems. The authors propose a new discipline, computational evolution, that replaces the outdated principles of artificial evolution with a modern understanding of biology.

    • Wolfgang Banzhaf
    • Guillaume Beslon
    • Jeremy J. Ramsden
    Reviews
    Nature Reviews Genetics
    Volume: 7, P: 729-735
  • In most cancers, mutations that lead to oncogene activation and tumor suppressor inactivation synergize to promote tumorigenesis. However, in neuroblastomas, MYCN amplification and ATRX mutations are mutually exclusive and incompatible.

    • Maged Zeineldin
    • Sara Federico
    • Michael A. Dyer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-20
  • Analysis of 1,988 cases of B-cell acute lymphoblastic leukemia characterizes 23 subtypes defined by genomic features and shows that two of the subtypes have frequent PAX5 alterations.

    • Zhaohui Gu
    • Michelle L. Churchman
    • Charles G. Mullighan
    Research
    Nature Genetics
    Volume: 51, P: 296-307
  • Analysing human B-cell acute lymphoblastic leukaemias, this study maps the genetic heterogeneity of cells within a given tumour sample and the evolutionary path by which different subclones have emerged. Leukaemia-initiating cells that transplant the disease mirror the genetic variegation of the bulk tumours, providing insights into the heterogeneity of these functional subpopulations at the genetic level. This has implications for therapeutic approaches targeting the tumours and specifically leukaemia-initiating cells.

    • Faiyaz Notta
    • Charles G. Mullighan
    • John E. Dick
    Research
    Nature
    Volume: 469, P: 362-367
  • An ambitious study has used more than 10,000 datasets to examine how the phenological characteristics—such as the timing of reproduction—of various taxa alter in response to climate change, and suggests that differing levels of climate sensitivity could lead to the desynchronization of seasonal events over time.

    • Stephen J. Thackeray
    • Peter A. Henrys
    • Sarah Wanless
    Research
    Nature
    Volume: 535, P: 241-245
  • Pediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here the authors analyse the genomes, exomes and transcriptomes of 37 such tumours and identify genetic alterations whose nature, timing and potential interactions are key events with prognostic significance in pediatric adrenocortical tumorigenesis.

    • Emilia M. Pinto
    • Xiang Chen
    • Gerard P. Zambetti
    Research
    Nature Communications
    Volume: 6, P: 1-10
  • Mutations that dysregulate Notch1 and Ras/PI3K signalling are common in T-cell acute lymphoblastic leukaemia; here, treatment with a PI3K inhibitor is shown to induce drug resistance that is associated with downregulation of activated Notch1 signalling, suggesting that inhibition of both Notch1 and PI3K could promote drug resistance.

    • Monique Dail
    • Jason Wong
    • Kevin Shannon
    Research
    Nature
    Volume: 513, P: 512-516
  • The notothenioid radiation is a remarkable group of fish adapted to life in the icy waters of the Southern Ocean. This study investigates the evolutionary history of this group and the basis of their adaption to cold environments through genomic analysis of 24 new genome assemblies.

    • Iliana Bista
    • Jonathan M. D. Wood
    • Richard Durbin
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-16
  • Countries are adopting ecological compensation policies aimed at achieving no net loss of biodiversity and ecosystem services. Here, Sonter and colleagues apply spatial simulation models to case studies in Australia, Brazil, Indonesia, and Mozambique to show that compensation alone is not sufficient to preserve biodiversity.

    • Laura J. Sonter
    • Jeremy S. Simmonds
    • Martine Maron
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-11
  • During the Cambrian Radiation, oxygenation occurred in a series of short pulses. Here, the authors quantify episodic changes in reef size, extent of habitat and in metacommunity ecological complexity associated with these oxygenation pulses by examining archaeocyath sponges.

    • Andrey Yu. Zhuravlev
    • Emily G. Mitchell
    • Amelia Penny
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-11
  • Every residue of a putative transmembrane helix in diacylglycerol kinase can be converted to both alanine and leucine while maintaining high specific activity, indicating that some transmembrane helices play a relatively passive role in structure and function.

    • Yufeng Zhou
    • Juan Wen
    • James U. Bowie
    Correspondence
    Nature Structural Biology
    Volume: 4, P: 986-990
  • Populations of bacterial pathogens can be diverse within colonized individuals. Here, the authors sequence the genomes of methicillin-resistant Staphylococcus aureusisolated from staff and animal patients at a veterinary hospital and show considerable within-host diversity that can rise and fall over time.

    • Gavin K. Paterson
    • Ewan M. Harrison
    • Mark A. Holmes
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10
  • Hematopoietic stem cells (HSCs) migrate from the fetal liver to the bone marrow (BM) during embryogenesis. Here the authors show that the WAVE2 complex scaffold Hem1 is required for engraftment of HSCs in BM, not through its canonical role regulating actin polymerization, but through c-Abl survival signaling.

    • Lijian Shao
    • Jianhui Chang
    • Robert A. Hromas
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-12