Now showing items 2-14 of 14

    • Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors. 

      Horton, Sarah Jayne; Giotopoulos, George; Yun, Haiyang; Vohra, Shabana; Sheppard, Olivia; Bashford-Rogers, Rachael Jennifer; Rashid, Mamunur et al. (2017-09)
    • Generation and Characterisation of a $\textit{Pax8}$-CreER$^\text{T2}$ Transgenic Line and a $\textit{Slc22a6}$-CreER$^\text{T2}$ Knock-In Line for Inducible and Specific Genetic Manipulation of Renal Tubular Epithelial Cells 

      Espana-Agusti, Judit; Zou, Xiangang; Wong, Kim; Fu, Beiyuan; Yang, Fengtang; Tuveson, David A; Adams, David J et al. (Public Library of Science, 2016-02-11)
      Genetically relevant mouse models need to recapitulate the hallmarks of human disease by permitting spatiotemporal gene targeting. This is especially important for replicating the biology of complex diseases like cancer, ...
    • A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice 

      McIntyre, Rebecca E; Nicod, Jérôme; Robles-Espinoza, Carla Daniela; Maciejowski, John; Cai, Na; Hill, Jennifer; Verstraten, Ruth et al. (Genetics Society of America, 2016-05-27)
      In mammals the regulation of genomic instability plays a key role in tumor suppression and also controls genome plasticity, which is important for recombination during the processes of immunity and meiosis. Most studies ...
    • Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells 

      Forment, Josep; Herzog, Mareike; Coates, Julia; Konopka, Tomasz; Gapp, Bianca V; Nijman, Sebastian M; Adams, David J et al. (Nature Publishing Group, 2016-10-31)
      In model organisms, classical genetic screening via random mutagenesis provides key insights into the molecular bases of genetic interactions, helping to define synthetic lethality, synthetic viability and drug-resistance ...
    • Germline TERT promoter mutations are rare in familial melanoma 

      Harland, Mark; Petljak, Mia; Robles-Espinoza, Carla Daniela; Ding, Zhihao; Gruis, Nelleke A; van, Doorn Remco; Pooley, Karen Anne et al. (Springer, 2015-10-03)
      Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation ...
    • A high-throughput in vivo micronucleus assay for genome instability screening in mice 

      Balmus, Gabriel; Karp, Natasha A; Ng, Bee Ling; Jackson, Stephen Philip; Adams, David J; McIntyre, Rebecca E (Nature Publishing Group, 2014-12-31)
      We describe a sensitive, robust, high-throughput method for quantifying the formation of micronuclei, markers of genome instability, in mouse erythrocytes. Micronuclei are whole chromosomes or chromosome segments that have ...
    • A minimally invasive, lentiviral based method for the rapid and sustained genetic manipulation of renal tubules. 

      Espana-Augusti, Judit; Tuveson, David A; Adams, David J; Matakidou, Athena (NPG, 2015-06-05)
      The accelerated discovery of disease-related genes emerging from genomic studies has strained the capacity of traditional genetically engineered mouse models (GEMMs) to provide in-vivo validation. Direct, somatic, genetic ...
    • A novel mouse model identifies cooperating mutations and therapeutic targets critical for chronic myeloid leukemia progression 

      Giotopoulos, George; van, der Weyden Louise; Osaki, Hikari; Rust, Alistair G; Gallipoli, Paolo; Meduri, Eshwar; Horton, Sarah Jayne et al. (Rockefeller University Press, 2015-08-24)
      The introduction of highly selective ABL-tyrosine kinase inhibitors (TKIs) has revolutionized therapy for chronic myeloid leukemia (CML). However, TKIs are only efficacious in the chronic phase of the disease and effective ...
    • POT1 loss-of-function variants predispose to familial melanoma 

      Robles-Espinoza, Carla Daniela; Harland, Mark; Ramsay, Andrew J; Aoude, Lauren G; Quesada, Víctor; Ding, Zhizhao; Pooley, Karen Anne et al. (NPG, 2014-03-30)
      We identify families in which early onset multiple primary melanoma co-segregates with inactivating mutations in the protection of telomeres 1 (POT1) gene. We show that missense mutations of POT1 in three families alter ...
    • Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5 +/− leukemia 

      van, der Weyden Louise; Giotopoulos, George; Wong, Kim; Rust, Alistair G; Robles-Espinoza, Carla D; Osaki, Hikari; Huntly, Brian James et al. (2015-08-13)
      Abstract Background B-cell precursor acute lymphoblastic leukemia (B-ALL) is amongst the leading causes of childhood cancer-related mortality. Its most common chromosomal ...
    • Synthetic lethality between PAXX and XLF in mammalian development 

      Balmus, Gabriel; Barros, Ana C; Wijnhoven, Paul WG; Lescale, Chloé; Hasse, Hélène Lenden; Boroviak, Katharina; le, Sage Carlos et al. (Cold Spring Harbor Laboratory Press, 2016-10-01)
      $\textit{PAXX}$ was identified recently as a novel nonhomologous end-joining DNA repair factor in human cells. To characterize its physiological roles, we generated $\textit{PAXX}$-deficient mice. Like $\textit{Xlf$^{−/−}$}$ ...
    • Synthetic-viability genomic screening defines Sae2 function in DNA repair 

      Puddu, Fabio; Oelschlaegel, Tobias; Guerini, Ilaria; Geisler, Nicola J; Niu, Hengyao; Herzog, Mareike; Salguero, Israel et al. (EMBO, 2015-04-21)
      DNA double-strand break (DSB) repair by homologous recombination (HR) requires 3' single-stranded DNA (ssDNA) generation by 5' DNA-end resection. During meiosis, yeast Sae2 cooperates with the nuclease Mre11 to remove ...
    • Targeted deletion of a 170-kb cluster of LINE-1 repeats and implications for regional control. 

      Soares, Miguel L; Edwards, Carol Ann; Dearden, Frances L; Ferrón, Sacri R; Curran, Scott; Corish, Jennifer A; Rancourt, Rebecca C et al. (Cold Spring Harbor Laboratory Press, 2018-01-24)
      Around half of the mammalian genome is composed of repetitive sequences and accumulating evidence suggests that some may have an impact on genome function. Here, we characterised a large array class of repeats of ...