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Results: 57
Targeted deletion of a 170-kb cluster of LINE-1 repeats and implications for regional control.
Miguel L Soares, Carol A Edwards, Frances L Dearden, Sacri R Ferrón, Scott Curran, Jennifer A Corish, Rebecca C Rancourt, Sarah E Allen, Marika Charalambous, Malcolm A Ferguson-Smith, Willem Rens, David J Adams, Anne C Ferguson-Smith
Mar 28, 2018
Approximately half the mammalian genome is composed of repetitive sequences, and accumulating evidence suggests that some may have an impact on genome function. Here, we characterized a large array class of repeats of...
Publisher Correction
Astrid von Mentzer, Joshua Tobias, Gudrun Wiklund, Stefan Nordqvist, Martin Aslett, Gordon Dougan, Åsa Sjöling, Ann-Mari Svennerholm
Oct 03, 2018
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
Associations between genomic stratification of breast cancer and centrally reviewed tumour pathology in the METABRIC cohort.
A Mukherjee, R Russell, Suet-Feung Chin, B Liu, OM Rueda, HR Ali, G Turashvili, B Mahler-Araujo, IO Ellis, S Aparicio, C Caldas, E Provenzano
Mar 13, 2018
The integration of genomic and transcriptomic profiles of 2000 breast tumours from the METABRIC [Molecular Taxonomy of Breast Cancer International Consortium] cohort revealed ten subtypes, termed integrative clusters...
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.
Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut PH Neumann, Emma R Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R Maher
Oct 03, 2017
Digital transcriptome profiling of normal and glioblastoma-derived neural stem cells identifies genes associated with patient survival.
Pär G Engström, Diva Tommei, Stefan H Stricker, Christine Ender, Steven M Pollard, Paul Bertone
Dec 22, 2012
Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.
BACKGROUND: Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid...
Primer synthesis by a eukaryotic-like archaeal primase is independent of its Fe-S cluster.
DNA replication depends on primase, the specialised polymerase responsible for synthesis of the RNA primers that are elongated by the replicative DNA polymerases. In eukaryotic and archaeal replication, primase is a heterodimer...
Systematic selection of small molecules to promote differentiation of embryonic stem cells and experimental validation for generating cardiomyocytes.
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.
DJ Lewis-Smith, J Duff, A Pyle, H Griffin, T Polvikoski, D Birchall, R Horvath, PF Chinnery
Nov 22, 2016
Predicting the mutations generated by repair of Cas9-induced double-strand breaks.
Felicity Allen, Luca Crepaldi, Clara Alsinet, Alexander J Strong, Vitalii Kleshchevnikov, Pietro De Angeli, Petra Páleníková, Anton Khodak, Vladimir Kiselev, Michael Kosicki, Andrew R Bassett, Heather Harding, Yaron Galanty, Francisco Muñoz-Martínez, Emmanouil Metzakopian, Stephen P Jackson, Leopold Parts
Dec 13, 2018
The DNA mutation produced by cellular repair of a CRISPR-Cas9-generated double-strand break determines its phenotypic effect. It is known that the mutational outcomes are not random, but depend on DNA sequence at the targeted...
Genome-wide association study for risk taking propensity indicates shared pathways with body mass index.
Emma Ad Clifton, John RB Perry, Fumiaki Imamura, Luca A Lotta, Soren Brage, Nita G Forouhi, Simon J Griffin, Nicholas J Wareham, Ken K Ong, Felix R Day
Jun 12, 2018
Risk-taking propensity is a trait of significant public health relevance but few specific genetic factors are known. Here we perform a genome-wide association study of self-reported risk-taking propensity among 436,236 white...
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