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Showing 1–14 of 14 results
Advanced filters: Author: Andrea Stutz Clear advanced filters

  • Focusing on two ill-characterized subtypes of medulloblastoma (group 3 and group 4), this study identifies prevalent genomic structural variants that are restricted to these two subtypes and independently bring together coding regions of GFI1 family proto-oncogenes with active enhancer elements, leading to their mutually exclusive oncogenic activation.

    • Paul A. Northcott
    • Catherine Lee
    • Stefan M. Pfister
    Research
    Nature
    Volume: 511, P: 428-434

  • 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

  • Various endogenous and pathogen-derived stimuli trigger the assembly of cytosolic multimolecular 'speck' platforms coordinated by the adapter ASC. Latz and colleagues demonstrate that ASC specks have extracellular functions that can prolong inflammation.

    • Bernardo S Franklin
    • Lukas Bossaller
    • Eicke Latz
    Research
    Nature Immunology
    Volume: 15, P: 727-737

  • 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

  • Analyses of genomes from 914 children, adolescents, and young adults provide a comprehensive resource of genomic alterations across a spectrum of common childhood cancers.

    • Susanne N. Gröbner
    • Barbara C. Worst
    • Stefan M. Pfister
    ResearchOpen Access
    Nature
    Volume: 555, P: 321-327

  • Medulloblastoma is the most common brain tumour in children; using whole-genome sequencing of tumour samples the authors show that the clinically challenging Group 3 and 4 tumours can be tetraploid, and reveal the expression of the first medulloblastoma fusion genes identified.

    • David T. W. Jones
    • Natalie Jäger
    • Peter Lichter
    ResearchOpen Access
    Nature
    Volume: 488, P: 100-105

  • Inflammasomes are multiprotein signalling platforms that activate the highly pro-inflammatory cytokines interleukin-1β (IL-1β) and IL-18 and induce cell death in response to pathogens and sterile stressors. This Review provides a comprehensive overview of our rapidly evolving understanding of the regulatory mechanisms that control the activation of distinct inflammasome components, as well as the non-canonical processing of IL-1β.

    • Eicke Latz
    • T. Sam Xiao
    • Andrea Stutz
    Reviews
    Nature Reviews Immunology
    Volume: 13, P: 397-411

  • Sequencing a person's genome may reveal large DNA insertions and other structural rearrangements, but assessing their effects requires pinpointing them to nucleotide resolution. Lam et al. use a library of previously discovered rearrangements to map and analyze genetic variation.

    • Hugo Y K Lam
    • Xinmeng Jasmine Mu
    • Mark B Gerstein
    Research
    Nature Biotechnology
    Volume: 28, P: 47-55