Search Results - "Cooke, Sophie L."

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1 by Abu-Libdeh, Bassam, Jhujh, Satpal S, Dhar, Srijita, Sommers, Joshua A, Datta, Arindam, Longo, Gabriel Mc, Grange, Laura J, Reynolds, John J, Cooke, Sophie L, McNee, Gavin S, Hollingworth, Robert, Woodward, Beth L, Ganesh, Anil N, Smerdon, Stephen J, Nicolae, Claudia M, Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Jr, Robert M, Stewart, Grant S

“…Despite being the first homolog of the bacterial RecQ helicase to be identified in humans, the function of RECQL1 remains poorly characterized. Furthermore,…”
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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy by Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P. A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M. R., Jackson, Andrew P., Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.

“…Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes…”
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Discovery and In Vivo Efficacy of AZ-PRMT5i-1, a Novel PRMT5 Inhibitor with High MTA Cooperativity by Smith, James M., Barlaam, Bernard, Beattie, David, Bradshaw, Lauren, Chan, Ho Man, Chiarparin, Elisabetta, Collingwood, Olga, Cooke, Sophie L., Cronin, Anna, Cumming, Iain, Dean, Emma, Debreczeni, Judit É., del Barco Barrantes, Iván, Diene, Coura, Gianni, Davide, Guerot, Carine, Guo, Xiaoxiao, Guven, Sinem, Hayhow, Thomas G., Hong, Ted, Kemmitt, Paul D., Lamont, Gillian M., Lamont, Scott, Lynch, James T., McWilliams, Lisa, Moore, Shaun, Raubo, Piotr, Robb, Graeme R., Robinson, James, Scott, James S., Srinivasan, Bharath, Steward, Oliver, Stubbs, Christopher J., Syson, Karl, Tan, Lixiang, Turner, Oliver, Underwood, Elizabeth, Urosevic, Jelena, Vazquez-Chantada, Mercedes, Whittaker, Amy L., Wilson, David M., Winter-Holt, Jon J.

“…PRMT5, a type 2 arginine methyltransferase, has a critical role in regulating cell growth and survival in cancer. With the aim of developing MTA-cooperative…”
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Tos4 mediates gene expression homeostasis through interaction with HDAC complexes independently of H3K56 acetylation by Cooke, Sophie L., Soares, Barbara L., Müller, Carolin A., Nieduszynski, Conrad A., Bastos de Oliveira, Francisco M., de Bruin, Robertus A.M.

“…Saccharomyces cerevisiae exhibits gene expression homeostasis, which is defined as the buffering of transcription levels against changes in DNA copy number…”
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