Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse

Autor: Johnathan Hoggarth, Robert W. Burgess, Lindsay S. Cahill, Jessie M. Cameron, John G. Sled, Misko Dzamba, Thomas J. Sproule, Lauryl M. J. Nutter, Patrick Macos, Julie Winterburn, Michael Brudno, R. Mark Henkelman

Publikováno v: J Neurosci

An impediment to the development of effective therapies for neurodegenerative disease is that available animal models do not reproduce important clinical features such as adult-onset and stereotypical patterns of progression. Using in vivo magnetic r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5928bf5669b3f52d06c11702d4750c3
https://doi.org/10.1523/jneurosci.0013-20.2020

Identification of complex genomic rearrangements in cancers using CouGaR

Autor: Misko Dzamba, Man Yu, Michael Brudno, Cynthia Hawkins, Arun K. Ramani, Yue Jiang, Pawel Buczkowicz

The genomic alterations associated with cancers are numerous and varied, involving both isolated and large-scale complex genomic rearrangements (CGRs). Although the underlying mechanisms are not well understood, CGRs have been implicated in tumorigen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd78333ea470bc735bd383498aad896
https://europepmc.org/articles/PMC5204335/

Detecting copy number variation with mated short reads

Autor: Michael Brudno, Paul Medvedev, Tim Smith, Marc Fiume, Misko Dzamba

Publikováno v: Genome Research. 20:1613-1622

The development of high-throughput sequencing (HTS) technologies has opened the door to novel methods for detecting copy number variants (CNVs) in the human genome. While in the past CNVs have been detected based on array CGH data, recent studies hav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c5775ea3585600ec890619c49efa1c0
https://doi.org/10.1101/gr.106344.110

Additional file 3: Figure S2. of A novel strain of cynomolgus macaque cytomegalovirus: implications for host-virus co-evolution

Autor: Russell, Justen, Marsh, Angie, Willer, David, Ambagala, Aruna, Misko Dzamba, Chan, Jacqueline, Pilon, Richard, Fournier, Jocelyn, Brudno, Michael, Antony, Joseph, Sandstrom, Paul, Evans, Ben, MacDonald, Kelly

Break down of two-dimensional bit-score plots between CMV Mauritius-RhCMV 68.1 versus CyCMV Mauritius-RhCMV 180.92 by ORF function. Graphs represent comparisons of ORF homologue bit-scores across three strains simultaneously. ORFs are coloured accord

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c00483275d75c4898c0e58d8eddb1e5

Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors

Autor: Constanze Zeller, Joseph D. Norman, Man Yu, Jian Qiang Lu, Doug Strother, Miklós Garami, C. Jane McGlade, Seung-Ki Kim, Misko Dzamba, Ronald Grant, David D. Eisenstat, Beverly Wilson, Anat Erdreich-Epstein, Almos Klekner, A. Sorana Morrissy, Richard Grundy, Young Shin Ra, Joanna J. Phillips, Alexandre Montpetit, Takafumi Wataya, Alexander R. Judkins, Shayna Zelcer, Nicholas K. Foreman, Rishi Lulla, Aline Cristiane Planello, Marc Remke, Harriet Druker, Annie Huang, Torsten Pietsch, José Pimentel, Jordan R. Hansford, Lindsey M. Hoffman, Mark Barszczyk, Tarik Tihan, Eugene Hwang, Vivek Mehta, László Bognár, Louis Letourneau, Donna L. Johnston, Stephen Yip, Lucie Lafay-Cousin, Mei Lu, Pasqualino De Antonellis, Katrin Scheinemann, Deena M.A. Gendoo, Shengrui Feng, James T. Rutka, G. Yancey Gillespie, Ho Keung Ng, Robert Hammond, David Malkin, Lúcia Roque, Anne Sophie Carret, King Ching Ho, Helen Toledano, Jennifer A. Chan, Monika Warmuth-Metz, Jacek Majewski, Jonathon Torchia, Livia Garzia, Stefan Rutkowski, Gino R. Somers, Tibor Hortobágyi, Ute Bartels, Peter Hauser, Ulrich Schüller, Cynthia Hawkins, Shih Hwa Chiou, Eric Bouffet, Adam Fleming, Alexandra N. Riemenschneider, Timothy E. Van Meter, Vijay Ramaswamy, Hideo Nakamura, Tiago Medina, Alexandre Vasiljevic, Noppadol Larbcharoensub, Patrick Sin-Chan, Christopher Dunham, Theodore Nicolaides, Iris Fried, Daniel Picard, Maryam Fouladi, Chris Fryer, Brian Golbourn, Mathieu Bourgey, Jean Michaud, Claudia C. Faria, Gary D. Bader, Mathieu Lupien, Amar Gajjar, Guillaume Bourque, Peter B. Dirks, Steffen Albrecht, Suradej Hongeng, Cheryl H. Arrowsmith, Uri Tabori, David A. Ramsay, Dalia Barsyte-Lovejoy, Paul Guilhamon, Michael Brudno, Nada Jabado, Juliette Hukin, Dong Anh Khuong-Quang, Michael D. Taylor, Tiffany Chan, Natalia R. Agamez, Daniel D. De Carvalho, Nongnuch Sirachainan, Samina Afzal, Seung Ah Choi, Diane K. Birks, Daniel W. Fults, Andrew S. Moore, Alyssa Reddy, Jason Fangusaro, Daniel Catchpoole, Yin Wang

We recently reported that atypical teratoid rhabdoid tumors (ATRTs) comprise at least two transcriptional subtypes with different clinical outcomes; however, the mechanisms underlying therapeutic heterogeneity remained unclear. In this study, we anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd543284281a8a171f42d71d0b75da35