Recent submissions
Now showing items 4001-4020 of 4775
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New tricks for an old dog: Brf2-dependent RNA Polymerase III transcription in oxidative stress and cancer.
(TAYLOR & FRANCIS INC, 2018-01-01)Here, we discuss the role of Brf2, an RNA Polymerase III core transcription factor, as a master switch of the oxidative stress response. We highlight the interplay of Brf2 with the Nrf2/Keap1 pathway, as well as the role ... -
Quantifying the Genetic Correlation between Multiple Cancer Types.
(AMER ASSOC CANCER RESEARCH, 2017-09-01)Background: Many cancers share specific genetic risk factors, including both rare high-penetrance mutations and common SNPs identified through genome-wide association studies (GWAS). However, little is known about the ... -
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
(CELL PRESS, 2017-05-04)To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) ... -
A Phase I Open-Label Study to Identify a Dosing Regimen of the Pan-AKT Inhibitor AZD5363 for Evaluation in Solid Tumors and in PIK3CA-Mutated Breast and Gynecologic Cancers.
(AMER ASSOC CANCER RESEARCH, 2017-10-24)Purpose: This phase I, open-label study (Study 1, D3610C00001; NCT01226316) was the first-in-human evaluation of oral AZD5363, a selective pan-AKT inhibitor, in patients with advanced solid malignancies. The objectives ... -
RNA polymerase I, bending the rules?
(WILEY, 2017-09-15)Transcription initiation is one of the key regulatory steps in expressing the genetic information encoded in the DNA. Mechanisms of RNA Pol II transcription have been extensively studied, whereas the structural basis of ... -
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
(F1000 Research Ltd, 2016-11-25)Background: Targeted next generation sequencing (NGS) panels are increasingly being used in clinical genomics to increase capacity, throughput and affordability of gene testing. Identifying whole exon deletions or duplications ... -
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
(NATURE PORTFOLIO, 2017-07-01)Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ... -
Cyclin B1 is essential for mitosis in mouse embryos, and its nuclear export sets the time for mitosis.
(ROCKEFELLER UNIV PRESS, 2018-01-02)There is remarkable redundancy between the Cyclin-Cdk complexes that comprise the cell cycle machinery. None of the mammalian A-, D-, or E-type cyclins are required in development until implantation, and only Cdk1 is ... -
A study of PD-L1 expression in KRAS mutant non-small cell lung cancer cell lines exposed to relevant targeted treatments.
(PUBLIC LIBRARY SCIENCE, 2017-10-05)We investigated PD-L1 changes in response to MEK and AKT inhibitors in KRAS mutant lung adenocarcinoma (adeno-NSCLC). PD-L1 expression was quantified using immunofluorescence and co-culture with a jurkat cell-line transfected ... -
Identification of ABC Transporter Interaction of a Novel Cyanoquinoline Radiotracer and Implications for Tumour Imaging by Positron Emission Tomography.
(PUBLIC LIBRARY SCIENCE, 2016-08-23)BACKGROUND: The epidermal growth factor receptor (EGFR) is overexpressed in many cancers including lung, ovarian, breast, head and neck and brain. Mutation of this receptor has been shown to play a crucial role in the ... -
A general [<SUP>18</SUP>F]AlF radiochemistry procedure on two automated synthesis platforms
(ROYAL SOC CHEMISTRY, 2017-02-01)<p>The first general [<sup>18</sup>F]AIF automated radiolabelling procedure developed on the GE Tracerlab FX FN (Left) and Trasis AllInOne (Right) platforms.</p> -
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
(NATURE PORTFOLIO, 2016-08-03)We present an easy-to-use, open-source Optimised Exome analysis tool, OpEx (http://icr.ac.uk/opex) that accurately detects small-scale variation, including indels, to clinical standards. We evaluated OpEx performance with ... -
The Mitotic Checkpoint Complex Requires an Evolutionary Conserved Cassette to Bind and Inhibit Active APC/C.
(CELL PRESS, 2016-12-15)The Spindle Assembly Checkpoint (SAC) ensures genomic stability by preventing sister chromatid separation until all chromosomes are attached to the spindle. It catalyzes the production of the Mitotic Checkpoint Complex ... -
Mismatch Repair Deficiency, Microsatellite Instability, and Survival: An Exploratory Analysis of the Medical Research Council Adjuvant Gastric Infusional Chemotherapy (MAGIC) Trial.
(AMER MEDICAL ASSOC, 2017-09-01)IMPORTANCE: Mismatch repair (MMR) deficiency (MMRD) and microsatellite instability (MSI) are prognostic for survival in many cancers and for resistance to fluoropyrimidines in early colon cancer. However, the effect of ... -
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
(NATURE PUBLISHING GROUP, 2013-04-01)Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ... -
Using dual-energy x-ray imaging to enhance automated lung tumor tracking during real-time adaptive radiotherapy.
(WILEY, 2015-12-01)PURPOSE: Real-time, markerless localization of lung tumors with kV imaging is often inhibited by ribs obscuring the tumor and poor soft-tissue contrast. This study investigates the use of dual-energy imaging, which can ... -
Assessment of MLC tracking performance during hypofractionated prostate radiotherapy using real-time dose reconstruction.
(IOP PUBLISHING LTD, 2016-02-21)By adapting to the actual patient anatomy during treatment, tracked multi-leaf collimator (MLC) treatment deliveries offer an opportunity for margin reduction and healthy tissue sparing. This is assumed to be especially ... -
Characterisation of the immune-related transcriptome in resected biliary tract cancers.
(ELSEVIER SCI LTD, 2017-11-01)UNLABELLED: Although biliary tract cancers (BTCs) are known to have an inflammatory component, a detailed characterisation of immune-related transcripts has never been performed. In these studies, nCounter PanCancer Immune ...