Browsing by title
Now showing items 2771-2790 of 4595
-
The mutational signatures of formalin fixation on the human genome.
(NATURE PORTFOLIO, 2022-09-06)Clinical archives of patient material near-exclusively consist of formalin-fixed and paraffin-embedded (FFPE) blocks. The ability to precisely characterise mutational signatures from FFPE-derived DNA has tremendous ... -
Mutational signatures of ionizing radiation in second malignancies.
(NATURE PUBLISHING GROUP, 2016-09-12)Ionizing radiation is a potent carcinogen, inducing cancer through DNA damage. The signatures of mutations arising in human tissues following in vivo exposure to ionizing radiation have not been documented. Here, we searched ... -
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
(WILEY-HINDAWI, 2018-05-01)The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of ... -
Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells.
(BMC, 2022-06-10)BACKGROUND: Development of resistance to targeted therapies has tempered initial optimism that precision oncology would improve poor outcomes for cancer patients. Resistance mechanisms, however, can also confer new ... -
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) ... -
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
(NATURE PORTFOLIO, 2020-07-23)Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ... -
MUTYH-Associated Polyposis: The Irish Experience>.
(2016-12-12)MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common ... -
MYCN expression induces replication stress and sensitivity to PARP inhibition in neuroblastoma.
(Impact Journals, LLC, 2020-06-09)This study investigates the influence expression of the MYCN oncogene has on the DNA damage response, replication fork progression and sensitivity to PARP inhibition in neuroblastoma. In a panel of neuroblastoma cell lines, ... -
MYOD-SKP2 axis boosts tumorigenesis in fusion negative rhabdomyosarcoma by preventing differentiation through p57Kip2 targeting.
(NATURE PORTFOLIO, 2023-12-15)Rhabdomyosarcomas (RMS) are pediatric mesenchymal-derived malignancies encompassing PAX3/7-FOXO1 Fusion Positive (FP)-RMS, and Fusion Negative (FN)-RMS with frequent RAS pathway mutations. RMS express the master myogenic ... -
Myosin and Actin Filaments in Muscle: Structures and Interactions.
(SPRINGER INTERNATIONAL PUBLISHING AG, 2017-01-01)In the last decade, improvements in electron microscopy and image processing have permitted significantly higher resolutions to be achieved (sometimes <1 nm) when studying isolated actin and myosin filaments. In the case ... -
Myst2/Kat7 histone acetyltransferase interaction proteomics reveals tumour-suppressor Niam as a novel binding partner in embryonic stem cells.
(NATURE PUBLISHING GROUP, 2017-08-15)MYST histone acetyltransferases have crucial functions in transcription, replication and DNA repair and are hence implicated in development and cancer. Here we characterise Myst2/Kat7/Hbo1 protein interactions in mouse ... -
Nanoneedle-Mediated Stimulation of Cell Mechanotransduction Machinery.
(AMER CHEMICAL SOC, 2019-03-26)Biomaterial substrates can be engineered to present topographical signals to cells which, through interactions between the material and active components of the cell membrane, regulate key cellular processes and guide cell ... -
Nanostructures from Synthetic Genetic Polymers.
(WILEY-V C H VERLAG GMBH, 2016-06-16)Nanoscale objects of increasing complexity can be constructed from DNA or RNA. However, the scope of potential applications could be enhanced by expanding beyond the moderate chemical diversity of natural nucleic acids. ... -
National implementation of multi-parametric magnetic resonance imaging for prostate cancer detection - recommendations from a UK consensus meeting.
(WILEY, 2018-07-01)OBJECTIVES: To identify areas of agreement and disagreement in the implementation of multi-parametric magnetic resonance imaging (mpMRI) of the prostate in the diagnostic pathway. MATERIALS AND METHODS: Fifteen UK experts ... -
National survey of fiducial marker insertion for prostate image guided radiotherapy.
(ELSEVIER SCI LTD, 2018-11-01)INTRODUCTION: In the United Kingdom fiducial marker IGRT is the second most common verification method employed in radical prostate radiotherapy yet little evidence exists to support centres introducing or developing this ... -
Nationwide trends in the incidence and outcome of patients with gastrointestinal stromal tumour in the imatinib era.
(2018-07)BACKGROUND:The incidence, treatment and outcome of patients with newly diagnosed gastrointestinal stromal tumour (GIST) were studied in an era known for advances in diagnosis and treatment. METHODS:Nationwide population-based ... -
Native Size-Exclusion Chromatography-Based Mass Spectrometry Reveals New Components of the Early Heat Shock Protein 90 Inhibition Response Among Limited Global Changes.
(ELSEVIER, 2023-02-01)The molecular chaperone heat shock protein 90 (HSP90) works in concert with co-chaperones to stabilize its client proteins, which include multiple drivers of oncogenesis and malignant progression. Pharmacologic inhibitors ... -
Natural Selection in Cancer Biology: From Molecular Snowflakes to Trait Hallmarks
(2017-02)Evolution by natural selection is the conceptual foundation for nearly every branch of biology and increasingly also for biomedicine and medical research. In cancer biology, evolution explains how populations of cells in ... -
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
(AMER SOC HEMATOLOGY, 2018-03-01)Mutations in NBEAL2, the gene encoding the scaffolding protein Nbeal2, are causal of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platelets lacking α-granules and progressive marrow ...
