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Showing 1–10 of 10 results
Advanced filters: Author: Erin Hedlund Clear advanced filters

  • In this study, the authors performed single-cell RNA-sequencing across various isogenic mutant FUS and TDP43 neurons. Mitochondrial dysfunction emerged as pathway unique to motor neurons demonstrating shared toxic gain of-function mechanisms, uncoupled from protein mislocalization.

    • Christoph Schweingruber
    • Jik Nijssen
    • Eva Hedlund
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-22

  • 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

  • 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

  • Proteins involved in epigenetic regulation are frequently mutated in several paediatric cancers. Here, Huether et al.characterize the somatic mutation frequency across 21 paediatric cancer subtypes by sequencing 633 epigenetic genes in over 1,000 tumours; generating a rich data set for investigating epigenetic dysregulation.

    • Robert Huether
    • Li Dong
    • James R. Downing
    Research
    Nature Communications
    Volume: 5, P: 1-7

  • Clinical oncology is rapidly adopting next-generation sequencing technology for nucleotide variant and indel detection. Here the authors present a three-platform approach (whole-genome, whole-exome, and whole-transcriptome) in pediatric patients for the detection of diverse types of germline and somatic variants.

    • Michael Rusch
    • Joy Nakitandwe
    • Jinghui Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13

  • Lars Bullinger, Jinghui Zhang, Jeffery Klco, James Downing and colleagues report a detailed genomic analysis of pediatric and adult core-binding factor acute myeloid leukemias (CBF-AMLs). They identify recurrent mutations in CCND2, MGA, DHX15 and ZBTB7A and highlight dramatic differences in the landscape of cooperating mutations between different CBF-AML subtypes.

    • Zachary J Faber
    • Xiang Chen
    • James R Downing
    Research
    Nature Genetics
    Volume: 48, P: 1551-1556

  • David Ellison and colleagues report whole-genome sequencing of pediatric low-grade gliomas, the most common pediatric brain tumor. They identify a range of genomic alterations, including recurrent and mutually exclusive duplications of the FGFR1 region encoding the tyrosine kinase domain and rearrangements of MYB.

    • Jinghui Zhang
    • Gang Wu
    • David W Ellison
    Research
    Nature Genetics
    Volume: 45, P: 602-612