Search Results - "Taylor, Martin S."
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Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development
Published in Cell (25-05-2012)“…The presence of ribonucleotides in genomic DNA is undesirable given their increased susceptibility to hydrolysis. Ribonuclease (RNase) H enzymes that recognize…”
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Affinity Proteomics Reveals Human Host Factors Implicated in Discrete Stages of LINE-1 Retrotransposition
Published in Cell (21-11-2013)“…LINE-1s are active human DNA parasites that are agents of genome dynamics in evolution and disease. These streamlined elements require host factors to complete…”
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3
Variant detection sensitivity and biases in whole genome and exome sequencing
Published in BMC bioinformatics (19-07-2014)“…Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly…”
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Lagging-strand replication shapes the mutational landscape of the genome
Published in Nature (London) (26-02-2015)“…The origin of mutations is central to understanding evolution and of key relevance to health. Variation occurs non-randomly across the genome, and mechanisms…”
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EWSR1/FUS-NFATc2 rearranged round cell sarcoma: clinicopathological series of 4 cases and literature review
Published in Human pathology (01-08-2019)“…The classification of bone neoplasms composed of small round cells is experiencing a transformation after the discovery of various gene fusion rearrangements…”
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Nitrogen and oxygen isotopic fractionation during microbial nitrite reduction
Published in Limnology and oceanography (01-05-2016)“…Microbial nitrite reduction plays an important role in the nitrogen cycle, producing the first gaseous product in the denitrification pathway. The role of…”
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Bidirectional transcription initiation marks accessible chromatin and is not specific to enhancers
Published in Genome Biology (28-12-2017)“…Enhancers are modular regulatory elements that are central to the spatial and temporal regulation of gene expression. Bidirectional transcription initiating at…”
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Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types
Published in PLoS genetics (04-08-2016)“…Disruption of gene regulation is known to play major roles in carcinogenesis and tumour progression. Here, we comprehensively characterize the mutational…”
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High Prevalence and Disease Correlation of Autoantibodies Against p40 Encoded by Long Interspersed Nuclear Elements in Systemic Lupus Erythematosus
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-01-2020)“…Objective Long interspersed nuclear element 1 (LINE‐1) encodes 2 proteins, the RNA binding protein p40 and endonuclease and reverse transcriptase (open‐reading…”
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Retrotransposon insertions in the clonal evolution of pancreatic ductal adenocarcinoma
Published in Nature medicine (01-09-2015)“…The authors find that alterations in retrotransposition can occur at different stages in the evolution of pancreatic adenocarcinoma. Pancreatic ductal…”
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The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation
Published in Genome Biology (04-04-2022)“…Promoters are sites of transcription initiation that harbour a high concentration of phenotype-associated genetic variation. The evolutionary gain and loss of…”
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Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer
Published in Nature communications (27-05-2021)“…In patients with metastatic cancer, spatial heterogeneity of somatic alterations may lead to incomplete assessment of a cancer’s mutational profile when…”
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Conservation and divergence in Toll-like receptor 4-regulated gene expression in primary human versus mouse macrophages
Published in Proceedings of the National Academy of Sciences - PNAS (17-04-2012)“…Evolutionary change in gene expression is generally considered to be a major driver of phenotypic differences between species. We investigated innate immune…”
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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
Published in American journal of human genetics (06-02-2014)“…Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating…”
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Evolution of the human-specific microRNA miR-941
Published in Nature communications (23-10-2012)“…MicroRNA-mediated gene regulation is important in many physiological processes. Here we explore the roles of a microRNA, miR-941, in human evolution. We find…”
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Dinosaur Body Temperatures Determined from Isotopic ( 13 C- 18 O) Ordering in Fossil Biominerals
Published in Science (American Association for the Advancement of Science) (22-07-2011)“…The nature of the physiology and thermal regulation of the nonavian dinosaurs is the subject of debate. Previously, arguments have been made for both…”
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Codon Usage and Splicing Jointly Influence mRNA Localization
Published in Cell systems (22-04-2020)“…In the human genome, most genes undergo splicing, and patterns of codon usage are splicing dependent: guanine and cytosine (GC) content is the highest within…”
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Orthotopic and heterotopic murine models of pancreatic cancer and their different responses to FOLFIRINOX chemotherapy
Published in Disease models & mechanisms (01-07-2018)“…Syngeneic, immunocompetent allograft tumor models recapitulate important aspects of the tumor microenvironment and have short tumor latency with predictable…”
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Novel and established EWSR1 gene fusions and associations identified by next-generation sequencing and fluorescence in-situ hybridization
Published in Human pathology (01-11-2019)“…EWSR1 is a ‘promiscuous’ gene that can fuse with many different partner genes in phenotypically identical tumors or partner with the same genes in…”
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Comparative transcriptomics of primary cells in vertebrates
Published in Genome research (01-07-2020)“…Gene expression profiles in homologous tissues have been observed to be different between species, which may be due to differences between species in the gene…”
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