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Showing 1–19 of 19 results
Advanced filters: Author: Sharon J. Diskin Clear advanced filters

  • The role of rare pathogenic/likely pathogenic (P/LP) germline variants in pediatric central nervous system (CNS) tumour development remains poorly understood. Here, the authors investigate the prevalence and clinical significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumour patients.

    • Ryan J. Corbett
    • Rebecca S. Kaufman
    • Sharon J. Diskin
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-17

  • Adrenocortical carcinoma (ACC) has limited treatment options and few tumor-specific targets. Here the authors report that the Notch ligand DLK1 is highly expressed in ACC acting as a regulator of tumor cell plasticity and chemoresistance, and that DLK1 can be targeted with an antibody drug conjugate.

    • Nai-Yun Sun
    • Suresh Kumar
    • Nitin Roper
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-15

  • Copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) are two important potential sources of phenotypic variation in humans; however, only SNPs have been associated with cancer. Here, a CNV at 1q21.1 is shown to be associated with neuroblastoma, and a transcript within this CNV, NBPF23, is implicated in early tumorigenesis of the disease.

    • Sharon J. Diskin
    • Cuiping Hou
    • John M. Maris
    Research
    Nature
    Volume: 459, P: 987-991

  • Here, single nucleotide variants within the LMO1 locus are shown to be associated with inherited susceptibility to neuroblastoma, a childhood cancer of the sympathetic nervous system. Acquired structural variation in the same locus was also frequently found in neuroblastoma patients, leading to the suggestion that loci identified through genome-wide association studies might be also prone to somatic alterations and therefore identify potential therapy targets and/or biomarkers of tumour aggressiveness.

    • Kai Wang
    • Sharon J. Diskin
    • John M. Maris
    Research
    Nature
    Volume: 469, P: 216-220

  • John Maris and colleagues report results of a genome-wide association and replication study for aggressive neuroblastoma. They show that common variants in the BARD1 locus at 2q35 are strongly associated with the disease.

    • Mario Capasso
    • Marcella Devoto
    • John M Maris
    Research
    Nature Genetics
    Volume: 41, P: 718-723

  • Cryo-STEM tomography of ferritin crystallization is used to reveal nonclassical evolution of crystalline order, indicating that it may be desolvation that drives the continuous evolution of order in crystallization.

    • Lothar Houben
    • Haim Weissman
    • Boris Rybtchinski
    Research
    Nature
    Volume: 579, P: 540-543

  • Olefin metathesis is a powerful synthetic method that largely rests on the reactivity of molybdenum- and ruthenium-based catalysts, as alternative metals have not yet been successfully substituted. Here the authors engineer an iron catalyst to effectively perform the stereoselective ring-opening metathesis polymerization of norbornene.

    • Satoshi Takebayashi
    • Mark A. Iron
    • David Milstein
    Research
    Nature Catalysis
    Volume: 5, P: 494-502

  • Chromosomal abnormalities such as 11q deletion are associated with poor prognosis in neuroblastoma. Here, the authors perform a genome-wide association study and identify an association between a variant within a Matrix metalloproteinase (MMP) gene member, MMP20, and 11q-deletion subtype neuroblastoma.

    • Xiao Chang
    • Yan Zhao
    • Hakon Hakonarson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-7

  • John Maris, Jan Molenaar, Gudrun Schleiermacher and colleagues performed whole-genome sequencing of 23 paired diagnostic and relapsed neuroblastomas, showing enrichment for mutations in the RAS-MAPK signaling pathway. These mutations render neuroblastoma cell lines susceptible to MEK inhibition.

    • Thomas F Eleveld
    • Derek A Oldridge
    • John M Maris
    Research
    Nature Genetics
    Volume: 47, P: 864-871

  • Designing and mining a eukaryotic genomics resource.

    • Jessica C. Kissinger
    • Brian P. Brunk
    • David S. Roos
    Comments & Opinion
    Nature
    Volume: 419, P: 490-492

  • A causal variant is identified at the LMO1 oncogene locus that drives the genetic association of LMO1 with neuroblastoma susceptibility; the causal SNP disrupts a GATA transcription factor binding site within a tissue-specific super-enhancer element in the first intron of LMO1, thereby affecting LMO1 expression.

    • Derek A. Oldridge
    • Andrew C. Wood
    • John M. Maris
    Research
    Nature
    Volume: 528, P: 418-421

  • John Maris, Matthew Meyerson, Marco Marra and colleagues report results of a large-scale sequencing study of neuroblastoma. They observe a low median exonic mutation frequency and strikingly few recurrently mutated genes in these tumors, highlighting challenges for developing targeted therapeutic strategies based on frequently mutated oncogenic drivers.

    • Trevor J Pugh
    • Olena Morozova
    • John M Maris
    Research
    Nature Genetics
    Volume: 45, P: 279-284

  • Ben-Nissan et al. present a rapid mass-spectrometry method for characterizing recombinant proteins directly from culture media. They test their method on secreted recombinant proteins from yeast, insect, and human cells, revealing solubility, molecular weight, structure, ligand binding and post-translational modifications.

    • Gili Ben-Nissan
    • Shay Vimer
    • Michal Sharon
    ResearchOpen Access
    Communications Biology
    Volume: 1, P: 1-12