Zobrazeno 1 - 10
of 881
pro vyhledávání: '"R Higgs"'
Autor:
Nicholas Davies, Tegan Francis, Ceri Oldreive, Maria Azam, Jordan Wilson, Philip J. Byrd, Megan Burley, Archana Sharma-Oates, Peter Keane, Sael Alatawi, Martin R. Higgs, Zbigniew Rudzki, Maha Ibrahim, Tracey Perry, Angelo Agathaggelou, Anne-Marie Hewitt, Edward Smith, Constanze Bonifer, Mark O’Connor, Josep V. Forment, Paul G. Murray, Eanna Fennell, Gemma Kelly, Catherine Chang, Grant S. Stewart, Tatjana Stankovic, Marwan Kwok, Alexander Malcolm Taylor
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Diffuse large B-cell lymphoma (DLBCL) is the most common malignancy that develops in patients with ataxia-telangiectasia, a cancer-predisposing inherited syndrome characterized by inactivating germline ATM mutations. ATM is also frequently mutated in
Externí odkaz:
https://doaj.org/article/a850f4208cec4de88e6a8aaa3e6fc37b
Autor:
Abhishek Bharadwaj Sharma, Muhammad Khairul Ramlee, Joel Kosmin, Martin R. Higgs, Amy Wolstenholme, George E. Ronson, Dylan Jones, Daniel Ebner, Noor Shamkhi, David Sims, Paul W. G. Wijnhoven, Josep V. Forment, Ian Gibbs-Seymour, Nicholas D. Lakin
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract While the toxicity of PARP inhibitors to cells with defects in homologous recombination (HR) is well established, other synthetic lethal interactions with PARP1/PARP2 disruption are poorly defined. To inform on these mechanisms we conducted
Externí odkaz:
https://doaj.org/article/173fc00005584212ac6ca37aec8c9ac4
Autor:
Mohsin Badat, Ayesha Ejaz, Peng Hua, Siobhan Rice, Weijiao Zhang, Lance D. Hentges, Christopher A. Fisher, Nicholas Denny, Ron Schwessinger, Nirmani Yasara, Noemi B. A. Roy, Fadi Issa, Andi Roy, Paul Telfer, Jim Hughes, Sachith Mettananda, Douglas R. Higgs, James O. J. Davies
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-7 (2023)
Abstract Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG
Externí odkaz:
https://doaj.org/article/88dbd35ddfe1418a8b4cd19610b19c39
Autor:
Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
Externí odkaz:
https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d
Autor:
D. M. Jeziorska, E. A. J. Tunnacliffe, J. M. Brown, H. Ayyub, J. Sloane-Stanley, J. A. Sharpe, B. C. Lagerholm, C. Babbs, A. J. H. Smith, V. J. Buckle, D. R. Higgs
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Here the authors observe transcription dynamics in real-time throughout erythropoiesis by combining PP7 tagging of α-globin RNA transcripts and “on-microscope” cell staging. They show how the pattern of transcriptional bursting changes during di
Externí odkaz:
https://doaj.org/article/0c3b40eaebc94c59a4d6b6a4888b986e
Autor:
Christopher B. Mahony, Lucy Copper, Pavle Vrljicak, Boris Noyvert, Chrystala Constantinidou, Sofia Browne, Yi Pan, Claire Palles, Sascha Ott, Martin R. Higgs, Rui Monteiro
Publikováno v:
Cell Reports, Vol 42, Iss 6, Pp 112571- (2023)
Summary: Inherited bone marrow failure associated with heterozygous mutations in GATA2 predisposes toward hematological malignancies, but the mechanisms remain poorly understood. Here, we investigate the mechanistic basis of marrow failure in a zebra
Externí odkaz:
https://doaj.org/article/10924ed2ad3f41449b9a5557d42942ee
Autor:
Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)
Although protein hydroxylation is a relatively poorly characterized posttranslational modification, it has received significant recent attention following seminal work uncovering its role in oxygen sensing and hypoxia biology. Although the fundamenta
Externí odkaz:
https://doaj.org/article/a5976c6079974ce1ba5fd035f60800a3
Autor:
Julia Truch, Damien J. Downes, Caroline Scott, E. Ravza Gür, Jelena M. Telenius, Emmanouela Repapi, Ron Schwessinger, Matthew Gosden, Jill M. Brown, Stephen Taylor, Pak Leng Cheong, Jim R. Hughes, Douglas R. Higgs, Richard J. Gibbons
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
The chromatin remodeling complex ATRX can promote gene expression, for example by binding G-quadruplexes (G4s) to prevent their negative effect on expression. Here the authors use a single-cell approach to show that only a subset of erythroid cells i
Externí odkaz:
https://doaj.org/article/129ba3790d2848caac330a7a88d251ec
Autor:
Abhishek Bharadwaj Sharma, Muhammad Khairul Ramlee, Joel Kosmin, Martin R. Higgs, Amy Wolstenholme, George E. Ronson, Dylan Jones, Daniel Ebner, Noor Shamkhi, David Sims, Paul W. G. Wijnhoven, Josep V. Forment, Ian Gibbs-Seymour, Nicholas D. Lakin
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/fd23401cf609461b83adf2c5dbfd01ea
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8