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Results: 36
EMQN best practice guidelines for genetic testing in dystrophinopathies
Carl Fratter, Raymond Dalgleish, Stephanie K. Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery-Giraud, Alessandra Ferlini
Feb 09, 2021
Abstract: Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability...
A plastid two-pore channel essential for inter-organelle communication and growth of Toxoplasma gondii
Zhu-Hong Li, Thayer P. King, Lawrence Ayong, Beejan Asady, Xinjiang Cai, Taufiq Rahman, Stephen A. Vella, Isabelle Coppens, Sandip Patel, Silvia N. J. Moreno
Oct 04, 2021
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)....
Genome-wide CRISPR/Cas9 deletion screen defines mitochondrial gene essentiality and identifies routes for tumour cell viability in hypoxia
Luke W. Thomas, Cinzia Esposito, Rachel E. Morgan, Stacey Price, Jamie Young, Steven P. Williams, Lucas A. Maddalena, Ultan McDermott, Margaret Ashcroft
May 21, 2021
ER-associated RNA silencing promotes ER quality control.
Sotirios Efstathiou, Franziska Ottens, Lena-Sophie Schütter, Sonia Ravanelli, Nikolaos Charmpilas, Aljona Gutschmidt, Jérémie Le Pen, Niels H Gehring, Eric A Miska, Jorge Bouças, Thorsten Hoppe
Dec 08, 2022
G-quadruplex DNA structures in human stem cells and differentiation
Katherine G Zyner, Angela Simeone, Sean M Flynn, Colm Doyle, Giovanni Marsico, Santosh Adhikari, Guillem Portella, David Tannahill, Shankar Balasubramanian
Jan 10, 2022
A cryptic hydrophobic pocket in the polo-box domain of the polo-like kinase PLK1 regulates substrate recognition and mitotic chromosome segregation
Pooja Sharma, Robert Mahen, Maxim Rossmann, Jamie E. Stokes, Bryn Hardwick, David J. Huggins, Amy Emery, Dominique L. Kunciw, Marko Hyvönen, David R. Spring, Grahame J. McKenzie, Ashok R. Venkitaraman
Nov 03, 2020
Abstract: The human polo-like kinase PLK1 coordinates mitotic chromosome segregation by phosphorylating multiple chromatin- and kinetochore-binding proteins. How PLK1 activity is directed to specific substrates via...
Genomics, social media and mobile phone data enable mapping of SARS-CoV-2 lineages to inform health policy in Bangladesh
Lauren A. Cowley, Mokibul Hassan Afrad, Sadia Isfat Ara Rahman, Md Mahfuz Al Mamun, Taylor Chin, Ayesha Mahmud, Mohammed Ziaur Rahman, Mallick Masum Billah, Manjur Hossain Khan, Sharmin Sultana, Tilovatul Khondaker, Stephen Baker, Nandita Banik, Ahmed Nawsher Alam, Kaiissar Mannoor, Sayera Banu, Anir Chowdhury, Meerjady Sabrina Flora, Nicholas R. Thomson, Caroline O. Buckee, Firdausi Qadri, Tahmina Shirin
Oct 01, 2021
Alternative splicing modulation by G-quadruplexes.
Ilias Georgakopoulos-Soares, Guillermo E Parada, Hei Yuen Wong, Ragini Medhi, Giulia Furlan, Roberto Munita, Eric A Miska, Chun Kit Kwok, Martin Hemberg
May 09, 2022
Alternative splicing is central to metazoan gene regulation, but the regulatory mechanisms are incompletely understood. Here, we show that G-quadruplex (G4) motifs are enriched ~3-fold near splice junctions. The importance of...
The mutREAD method detects mutational signatures from low quantities of cancer DNA
Juliane Perner, Sujath Abbas, Karol Nowicki-Osuch, Ginny Devonshire, Matthew D. Eldridge, Simon Tavaré, Rebecca C. Fitzgerald
Jun 23, 2021
EMQN best practice guidelines for genetic testing in dystrophinopathies
Carl Fratter, Raymond Dalgleish, Stephanie K. Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery-Giraud, Alessandra Ferlini
Aug 24, 2020
Abstract: Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability...
Dysbiosis associated with acute helminth infections in herbivorous youngstock – observations and implications
Laura E. Peachey, Cecilia Castro, Rebecca A. Molena, Timothy P. Jenkins, Julian L. Griffin, Cinzia Cantacessi
Jul 30, 2020
Abstract: A plethora of data points towards a role of the gastrointestinal (GI) microbiota of neonatal and young vertebrates in supporting the development and regulation of the host immune system. However, knowledge of the...
The mutREAD method detects mutational signatures from low quantities of cancer DNA
Juliane Perner, Sujath Abbas, Karol Nowicki-Osuch, Ginny Devonshire, Matthew D. Eldridge, Simon Tavaré, Rebecca C. Fitzgerald
Jun 23, 2020
The coincidence of ecological opportunity with hybridization explains rapid adaptive radiation in Lake Mweru cichlid fishes
Joana I. Meier, Rike B. Stelkens, Domino A. Joyce, Salome Mwaiko, Numel Phiri, Ulrich K. Schliewen, Oliver M. Selz, Catherine E. Wagner, Cyprian Katongo, Ole Seehausen
Dec 02, 2020
Abstract: The process of adaptive radiation was classically hypothesized to require isolation of a lineage from its source (no gene flow) and from related species (no competition). Alternatively, hybridization between species...
Transcription-dependent cohesin repositioning rewires chromatin loops in cellular senescence
Ioana Olan, Aled J. Parry, Stefan Schoenfelder, Masako Narita, Yoko Ito, Adelyne S. L. Chan, Guy St.C. Slater, Dóra Bihary, Masashige Bando, Katsuhiko Shirahige, Hiroshi Kimura, Shamith A. Samarajiwa, Peter Fraser, Masashi Narita
Nov 27, 2020
Abstract: Senescence is a state of stable proliferative arrest, generally accompanied by the senescence-associated secretory phenotype, which modulates tissue homeostasis. Enhancer-promoter interactions, facilitated by chromatin...
STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma
Cosimo Lobello, Boris Tichy, Vojtech Bystry, Lenka Radova, Daniel Filip, Marek Mraz, Ivonne-Aidee Montes-Mojarro, Nina Prokoph, Hugo Larose, Huan-Chang Liang, Geeta G. Sharma, Luca Mologni, David Belada, Katerina Kamaradova, Falko Fend, Carlo Gambacorti-Passerini, Olaf Merkel, Suzanne D. Turner, Andrea Janikova, Sarka Pospisilova
May 06, 2021
Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma
AM Newman, M Zaka, P Zhou, AE Blain, A Erhorn, A Barnard, RE Crossland, S Wilkinson, A Enshaei, J De Zordi, F Harding, M Taj, KM Wood, D Televantou, SD Turner, GAA Burke, CJ Harrison, S Bomken, CM Bacon, V Rand
Feb 28, 2022
Grey wolf genomic history reveals a dual ancestry of dogs.
Anders Bergström, David WG Stanton, Ulrike H Taron, Laurent Frantz, Mikkel-Holger S Sinding, Erik Ersmark, Saskia Pfrengle, Molly Cassatt-Johnstone, Ophélie Lebrasseur, Linus Girdland-Flink, Daniel M Fernandes, Morgane Ollivier, Leo Speidel, Shyam Gopalakrishnan, Michael V Westbury, Jazmin Ramos-Madrigal, Tatiana R Feuerborn, Ella Reiter, Joscha Gretzinger, Susanne C Münzel, Pooja Swali, Nicholas J Conard, Christian Carøe, James Haile, Anna Linderholm, Semyon Androsov, Ian Barnes, Chris Baumann, Norbert Benecke, Hervé Bocherens, Selina Brace, Ruth F Carden, Dorothée G Drucker, Sergey Fedorov, Mihály Gasparik, Mietje Germonpré, Semyon Grigoriev, Pam Groves, Stefan T Hertwig, Varvara V Ivanova, Luc Janssens, Richard P Jennings, Aleksei K Kasparov, Irina V Kirillova, Islam Kurmaniyazov, Yaroslav V Kuzmin, Pavel A Kosintsev, Martina Lázničková-Galetová, Charlotte Leduc, Pavel Nikolskiy, Marc Nussbaumer, Cóilín O'Drisceoil, Ludovic Orlando, Alan Outram, Elena Y Pavlova, Angela R Perri, Małgorzata Pilot, Vladimir V Pitulko, Valerii V Plotnikov, Albert V Protopopov, André Rehazek, Mikhail Sablin, Andaine Seguin-Orlando, Jan Storå, Christian Verjux, Victor F Zaibert, Grant Zazula, Philippe Crombé, Anders J Hansen, Eske Willerslev, Jennifer A Leonard, Anders Götherström, Ron Pinhasi, Verena J Schuenemann, Michael Hofreiter, M Thomas P Gilbert, Beth Shapiro, Greger Larson, Johannes Krause, Love Dalén, Pontus Skoglund
Jul 14, 2022
The grey wolf (Canis lupus) was the first species to give rise to a domestic population, and they remained widespread throughout the last Ice Age when many other large mammal species went extinct. Little is known, however, about...
FANCM promotes class I interfering crossovers and suppresses class II non-interfering crossovers in wheat meiosis.
Stuart D Desjardins, James Simmonds, Inna Guterman, Kostya Kanyuka, Amanda J Burridge, Andrew Tock, Eugenio Sanchez-Moran, F Chris H Franklin, Ian Henderson, Keith J Edwards, Cristobal Uauy, James D Higgins
Jun 29, 2022
FANCM suppresses crossovers in plants by unwinding recombination intermediates. In wheat, crossovers are skewed toward the chromosome ends, thus limiting generation of novel allelic combinations. Here, we observe that FANCM...
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...
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George AR Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, Joan Brunet, Saundra S Buys, Maria A Caligo, Ian Campbell, Wendy K Chung, Kathleen BM Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J Couch, Mary B Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M Domchek, Alan Donaldson, Jacqueline Eason, Douglas F Easton, Hans Ehrencrona, Christoph Engel, D Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A Gayther, Andrea Gehrig, Paul Gesta, Andrew K Godwin, David E Goldgar, Mark H Greene, Eric Hahnen, Christopher R Hake, Ute Hamann, Thomas vO Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J Hulick, Evgeny N Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Vijai Joseph, Beth Y Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L Mai, Siranoush Manoukian, Véronique Mari, John WM Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Ana Osorio, Claus-Eric Ott, Sue K Park, Michael T Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C Rodriguez, Karina Rønlund, Efraim H Rosenberg, Maria Rossing, Rita K Schmutzler, Payal D Shah, Saba Sharif, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L Thull, Marc Tischkowitz, Amanda E Toland, Alison H Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N Weitzel, Marike R Wevers, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Logan C Walker
Oct 07, 2022
Chemotherapy-induced transposable elements activate MDA5 to enhance haematopoietic regeneration
Thomas Clapes, Aikaterini Polyzou, Pia Prater, Sagar, Antonio Morales-Hernández, Mariana Galvao Ferrarini, Natalie Kehrer, Stylianos Lefkopoulos, Veronica Bergo, Barbara Hummel, Nadine Obier, Daniel Maticzka, Anne Bridgeman, Josip S. Herman, Ibrahim Ilik, Lhéanna Klaeylé, Jan Rehwinkel, Shannon McKinney-Freeman, Rolf Backofen, Asifa Akhtar, Nina Cabezas-Wallscheid, Ritwick Sawarkar, Rita Rebollo, Dominic Grün, Eirini Trompouki
Oct 05, 2021
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...
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