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Results: 19
Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing
Giulia Maule, Antonio Casini, Claudia Montagna, Anabela S. Ramalho, Kris De Boeck, Zeger Debyser, Marianne S. Carlon, Gianluca Petris, Anna Cereseto
Aug 06, 2020
Abstract: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. The 3272–26A>G and 3849+10kbC>T CFTR mutations alter the correct splicing of the CFTR gene, generating new acceptor and donor...
Computer-aided synthesis of dapsone-phytochemical conjugates against dapsone-resistant Mycobacterium leprae
Shasank S. Swain, Sudhir K. Paidesetty, Budheswar Dehury, Madhusmita Das, Sundeep C. Vedithi, Rabindra N. Padhy
Apr 22, 2021
Abstract: Leprosy continues to be the belligerent public health hazard for the causation of high disability and eventual morbidity cases with stable prevalence rates, even with treatment by the on-going multidrug therapy (MDT)....
The long non-coding RNA HOXB-AS3 regulates ribosomal RNA transcription in NPM1 -mutated acute myeloid leukemia
Dimitrios Papaioannou, Andreas Petri, Oliver M. Dovey, Sara Terreri, Eric Wang, Frances A. Collins, Lauren A. Woodward, Allison E. Walker, Deedra Nicolet, Felice Pepe, Prasanthi Kumchala, Marius Bill, Christopher J. Walker, Malith Karunasiri, Krzysztof Mrózek, Miranda L. Gardner, Virginia Camilotto, Nina Zitzer, Jonathan L. Cooper, Xiongwei Cai, Xiaoqing Rong-Mullins, Jessica Kohlschmidt, Kellie J. Archer, Michael A. Freitas, Yi Zheng, Robert J. Lee, Iannis Aifantis, George Vassiliou, Guramrit Singh, Sakari Kauppinen, Clara D. Bloomfield, Adrienne M. Dorrance, Ramiro Garzon
Jul 29, 2020
Dissecting the early steps of MLL induced leukaemogenic transformation using a mouse model of AML
Silvia Basilico, Xiaonan Wang, Alison Kennedy, Konstantinos Tzelepis, George Giotopoulos, Sarah J. Kinston, Pedro M. Quiros, Kim Wong, David J. Adams, Larissa S. Carnevalli, Brian J. P. Huntly, George S. Vassiliou, Fernando J. Calero-Nieto, Berthold Göttgens
Mar 16, 2021
Abstract: Leukaemogenic mutations commonly disrupt cellular differentiation and/or enhance proliferation, thus perturbing the regulatory programs that control self-renewal and differentiation of stem and progenitor cells....
Patient-specific cancer genes contribute to recurrently perturbed pathways and establish therapeutic vulnerabilities in esophageal adenocarcinoma
Thanos P. Mourikis, Lorena Benedetti, Elizabeth Foxall, Damjan Temelkovski, Joel Nulsen, Juliane Perner, Matteo Cereda, Jesper Lagergren, Michael Howell, Christopher Yau, Rebecca C. Fitzgerald, Paola Scaffidi, Francesca D. Ciccarelli, Ayesha Noorani, Paul A. W. Edwards, Rachael Fels Elliott, Nicola Grehan, Barbara Nutzinger, Caitriona Hughes, Elwira Fidziukiewicz, Jan Bornschein, Shona MacRae, Jason Crawte, Alex Northrop, Gianmarco Contino, Xiaodun Li, Rachel de la Rue, Annalise Katz-Summercorn, Sujath Abbas, Daniel Loureda, Maria O’Donovan, Ahmad Miremadi, Shalini Malhotra, Monika Tripathi, Simon Tavaré, Andy G. Lynch, Matthew Eldridge, Maria Secrier, Lawrence Bower, Ginny Devonshire, Sriganesh Jammula, Jim Davies, Charles Crichton, Nick Carroll, Peter Safranek, Andrew Hindmarsh, Vijayendran Sujendran, Stephen J. Hayes, Yeng Ang, Andrew Sharrocks, Shaun R. Preston, Sarah Oakes, Izhar Bagwan, Vicki Save, Richard J. E. Skipworth, Ted R. Hupp, J. Robert O’Neill, Olga Tucker, Andrew Beggs, Philippe Taniere, Sonia Puig, Timothy J. Underwood, Robert C. Walker, Ben L. Grace, Hugh Barr, Neil Shepherd, Oliver Old, James Gossage, Andrew Davies, Fuju Chang, Janine Zylstra, Ula Mahadeva, Vicky Goh, Grant Sanders, Richard Berrisford, Catherine Harden, Mike Lewis, Ed Cheong, Bhaskar Kumar, Simon L. Parsons, Irshad Soomro, Philip Kaye, John Saunders, Laurence Lovat, Rehan Haidry, Laszlo Igali, Michael Scott, Sharmila Sothi, Sari Suortamo, Suzy Lishman, George B. Hanna, Christopher J. Peters, Krishna Moorthy, Anna Grabowska, Richard Turkington, Damian McManus, David Khoo, Will Fickling
Jul 14, 2020
Abstract: The identification of cancer-promoting genetic alterations is challenging particularly in highly unstable and heterogeneous cancers, such as esophageal adenocarcinoma (EAC). Here we describe a machine learning...
PALB2 chromatin recruitment restores homologous recombination in BRCA1-deficient cells depleted of 53BP1
Rimma Belotserkovskaya, Elisenda Raga Gil, Nicola Lawrence, Richard Butler, Gillian Clifford, Marcus D. Wilson, Stephen P. Jackson
Feb 09, 2021
Abstract: Loss of functional BRCA1 protein leads to defects in DNA double-strand break (DSB) repair by homologous recombination (HR) and renders cells hypersensitive to poly (ADP-ribose) polymerase (PARP) inhibitors used to...
Defective folate metabolism causes germline epigenetic instability and distinguishes Hira as a phenotype inheritance biomarker
Georgina E. T. Blake, Xiaohui Zhao, Hong Wa Yung, Graham J. Burton, Anne C. Ferguson-Smith, Russell S. Hamilton, Erica D. Watson
Jun 17, 2021
The long non-coding RNA HOXB-AS3 regulates ribosomal RNA transcription in NPM1 -mutated acute myeloid leukemia
Dimitrios Papaioannou, Andreas Petri, Oliver M. Dovey, Sara Terreri, Eric Wang, Frances A. Collins, Lauren A. Woodward, Allison E. Walker, Deedra Nicolet, Felice Pepe, Prasanthi Kumchala, Marius Bill, Christopher J. Walker, Malith Karunasiri, Krzysztof Mrózek, Miranda L. Gardner, Virginia Camilotto, Nina Zitzer, Jonathan L. Cooper, Xiongwei Cai, Xiaoqing Rong-Mullins, Jessica Kohlschmidt, Kellie J. Archer, Michael A. Freitas, Yi Zheng, Robert J. Lee, Iannis Aifantis, George Vassiliou, Guramrit Singh, Sakari Kauppinen, Clara D. Bloomfield, Adrienne M. Dorrance, Ramiro Garzon
Nov 24, 2020
Developmental potential of aneuploid human embryos cultured beyond implantation
Marta N. Shahbazi, Tianren Wang, Xin Tao, Bailey A. T. Weatherbee, Li Sun, Yiping Zhan, Laura Keller, Gary D. Smith, Antonio Pellicer, Richard T. Scott, Emre Seli, Magdalena Zernicka-Goetz
Aug 10, 2020
Prophage exotoxins enhance colonization fitness in epidemic scarlet fever-causing Streptococcus pyogenes
Stephan Brouwer, Timothy C. Barnett, Diane Ly, Katherine J. Kasper, David M. P. De Oliveira, Tania Rivera-Hernandez, Amanda J. Cork, Liam McIntyre, Magnus G. Jespersen, Johanna Richter, Benjamin L. Schulz, Gordon Dougan, Victor Nizet, Kwok-Yung Yuen, Yuanhai You, John K. McCormick, Martina L. Sanderson-Smith, Mark R. Davies, Mark J. Walker
Oct 06, 2021
Abstract: The re-emergence of scarlet fever poses a new global public health threat. The capacity of North-East Asian serotype M12 (emm12) Streptococcus pyogenes (group A Streptococcus, GAS) to cause scarlet fever has been...
Developmental potential of aneuploid human embryos cultured beyond implantation
Marta N. Shahbazi, Tianren Wang, Xin Tao, Bailey A. T. Weatherbee, Li Sun, Yiping Zhan, Laura Keller, Gary D. Smith, Antonio Pellicer, Richard T., Jr. Scott, Emre Seli, Magdalena Zernicka-Goetz
Aug 11, 2021
Homologous recombination DNA repair deficiency and PARP inhibition activity in primary triple negative breast cancer
Neha Chopra, Holly Tovey, Alex Pearson, Ros Cutts, Christy Toms, Paula Proszek, Michael Hubank, Mitch Dowsett, Andrew Dodson, Frances Daley, Divya Kriplani, Heidi Gevensleben, Helen Ruth Davies, Andrea Degasperi, Rebecca Roylance, Stephen Chan, Andrew Tutt, Anthony Skene, Abigail Evans, Judith M. Bliss, Serena Nik-Zainal, Nicholas C. Turner
May 29, 2021
Prophage exotoxins enhance colonization fitness in epidemic scarlet fever-causing Streptococcus pyogenes
Stephan Brouwer, Timothy C. Barnett, Diane Ly, Katherine J. Kasper, David M. P. De Oliveira, Tania Rivera-Hernandez, Amanda J. Cork, Liam McIntyre, Magnus G. Jespersen, Johanna Richter, Benjamin L. Schulz, Gordon Dougan, Victor Nizet, Kwok-Yung Yuen, Yuanhai You, John K. McCormick, Martina L. Sanderson-Smith, Mark R. Davies, Mark J. Walker
Oct 06, 2020
Abstract: The re-emergence of scarlet fever poses a new global public health threat. The capacity of North-East Asian serotype M12 (emm12) Streptococcus pyogenes (group A Streptococcus, GAS) to cause scarlet fever has been...
Epigenetic homogeneity in histone methylation underlies sperm programming for embryonic transcription
Mami Oikawa, Angela Simeone, Eva Hormanseder, Marta Teperek, Vincent Gaggioli, Alan O’Doherty, Emma Falk, Matthieu Sporniak, Clive D’Santos, Valar Nila Roamio Franklin, Kamal Kishore, Charles R. Bradshaw, Declan Keane, Thomas Freour, Laurent David, Adrian T. Grzybowski, Alexander J. Ruthenburg, John Gurdon, Jerome Jullien
Jul 28, 2021
Abstract: Sperm contributes genetic and epigenetic information to the embryo to efficiently support development. However, the mechanism underlying such developmental competence remains elusive. Here, we investigated whether all...
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S Zaki, Alban Ziegler, David R Thorburn, David A Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Feb 23, 2023
Epigenetic homogeneity in histone methylation underlies sperm programming for embryonic transcription
Mami Oikawa, Angela Simeone, Eva Hormanseder, Marta Teperek, Vincent Gaggioli, Alan O’Doherty, Emma Falk, Matthieu Sporniak, Clive D’Santos, Valar Nila Roamio Franklin, Kamal Kishore, Charles R. Bradshaw, Declan Keane, Thomas Freour, Laurent David, Adrian T. Grzybowski, Alexander J. Ruthenburg, John Gurdon, Jerome Jullien
Jul 13, 2020
Abstract: Sperm contributes genetic and epigenetic information to the embryo to efficiently support development. However, the mechanism underlying such developmental competence remains elusive. Here, we investigated whether all...
The targetable kinase PIM1 drives ALK inhibitor resistance in high-risk neuroblastoma independent of MYCN status
Ricky M. Trigg, Liam C. Lee, Nina Prokoph, Leila Jahangiri, C. Patrick Reynolds, G. A. Amos Burke, Nicola A. Probst, Miaojun Han, Jamie D. Matthews, Hong Kai Lim, Eleanor Manners, Sonia Martinez, Joaquin Pastor, Carmen Blanco-Aparicio, Olaf Merkel, Ines Garces de Los Fayos Alonso, Petra Kodajova, Simone Tangermann, Sandra Högler, Ji Luo, Lukas Kenner, Suzanne D. Turner
Nov 27, 2020
Abstract: Resistance to anaplastic lymphoma kinase (ALK)-targeted therapy in ALK-positive non-small cell lung cancer has been reported, with the majority of acquired resistance mechanisms relying on bypass signaling. To...
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Somatic genetic rescue of a germline ribosome assembly defect
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Aug 19, 2021
Abstract: Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in...
Balanced gene dosage control rather than parental origin underpins genomic imprinting.
Ariella Weinberg-Shukron, Raz Ben-Yair, Nozomi Takahashi, Marko Dunjić, Alon Shtrikman, Carol A Edwards, Anne C Ferguson-Smith, Yonatan Stelzer
Jul 29, 2022