Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Velimir, Gayevskiy"'
Autor:
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to u
Externí odkaz:
https://doaj.org/article/a68b29b28f7044f1a5d703764aca0078
Autor:
Robert Johnston, Hartmut Koeppen, Roy S Herbst, Kurt Schalper, Filippo De Marinis, Giuseppe Giaccone, Jacek Jassem, Marcus Ballinger, Barani Kumar Rajendran, David R Spigel, Miguel López de Rodas, Minu K Srivastava, Jennifer M Giltnane, Barzin Y Nabet, David S Shames, Velimir Gayevskiy, Vy Ma, Ivette Estay, Tien Hoang, Reena Amin
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/49316787c82b4055a76f2b4631e47f3f
Autor:
Tracy L. Leong, Christian Aloe, Savreet Aujla, Hao Wang, Velimir Gayevskiy, Marie-Liesse Asselin-Labat, Lesley-Ann Gray, Daniel Steinfort, Steven Bozinovski
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
IntroductionTumour mutational burden (TMB) is an important emerging biomarker for immune checkpoint inhibitors (ICI). The stability of TMB values across distinct EBUS tumour regions is not well defined in advanced lung cancer patients.MethodsThis stu
Externí odkaz:
https://doaj.org/article/ef6513c944cc4d00a5e006d6614b1261
Autor:
Maria Tsoli, Carol Wadham, Mark Pinese, Tim Failes, Swapna Joshi, Emily Mould, Julia X. Yin, Velimir Gayevskiy, Amit Kumar, Warren Kaplan, Paul G. Ekert, Federica Saletta, Laura Franshaw, Jie Liu, Andrew Gifford, Martin A. Weber, Michael Rodriguez, Richard J. Cohn, Greg Arndt, Vanessa Tyrrell, Michelle Haber, Toby Trahair, Glenn M. Marshall, Kerrie McDonald, Mark J. Cowley, David S. Ziegler
Publikováno v:
Cancer Biology & Therapy, Vol 19, Iss 12, Pp 1078-1087 (2018)
Pediatric high grade gliomas (HGG) are primary brain malignancies that result in significant morbidity and mortality. One of the challenges in their treatment is inter- and intra-tumoral heterogeneity. Precision medicine approaches have the potential
Externí odkaz:
https://doaj.org/article/40d80c282f0c4c19a65cd0dbc3b32bea
Autor:
Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 46-51 (2018)
Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic
Externí odkaz:
https://doaj.org/article/200e2d28977c4ba3868988de70ca5ca7
Autor:
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou
Publikováno v:
Human Mutation. 43:1970-1978
Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e11260540fcdf4132eee665d92873d
https://doi.org/10.1002/humu.24453
https://doi.org/10.1002/humu.24453
Autor:
Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Christina Liang, Kate E. Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E. Minoche, Velimir Gayevskiy, Amali C. Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E. Dinger, Mark J. Cowley, Carolyn M. Sue
Publikováno v:
Neurology. 99:e730-e742
Background and ObjectivesMitochondrial diseases (MDs) are the commonest group of heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis challenging, and causative genetic variants may reside in either mitochondrial or nuclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::755223dc28cea5cff5f454ccaf64fb26
https://doi.org/10.1212/wnl.0000000000200745
https://doi.org/10.1212/wnl.0000000000200745
Autor:
Jane Merlevede, Nathalie Droin, Tingting Qin, Kristen Meldi, Kenichi Yoshida, Margot Morabito, Emilie Chautard, Didier Auboeuf, Pierre Fenaux, Thorsten Braun, Raphael Itzykson, Stéphane de Botton, Bruno Quesnel, Thérèse Commes, Eric Jourdan, William Vainchenker, Olivier Bernard, Noemie Pata-Merci, Stéphanie Solier, Velimir Gayevskiy, Marcel E. Dinger, Mark J. Cowley, Dorothée Selimoglu-Buet, Vincent Meyer, François Artiguenave, Jean-François Deleuze, Claude Preudhomme, Michael R. Stratton, Ludmil B. Alexandrov, Eric Padron, Seishi Ogawa, Serge Koscielny, Maria Figueroa, Eric Solary
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Chronic myelomonocytic leukaemia is treated with agents that modify DNA methylation but whether they have direct cytotoxic effects is unclear. Here, the authors show that cells from treated patients show marked methylation changes without altered som
Externí odkaz:
https://doaj.org/article/3d387d13bd0349019c8a2486e3d50c61
Autor:
Samuel Rogers, Rachael A. McCloy, Benjamin L. Parker, Rima Chaudhuri, Velimir Gayevskiy, Nolan J. Hoffman, D. Neil Watkins, Roger J. Daly, David E. James, Andrew Burgess
Publikováno v:
Data in Brief, Vol 5, Iss C, Pp 45-52 (2015)
The presence or absence of a phosphorylation on a substrate at any particular point in time is a functional readout of the balance in activity between the regulatory kinase and the counteracting phosphatase. Understanding how stable or short-lived a
Externí odkaz:
https://doaj.org/article/46621992fe4a45f4926e6cca55eceab8
Autor:
Clare E. Weeden, Velimir Gayevskiy, Claire Marceaux, Daniel Batey, Tania Tan, Kenta Yokote, Nina Tubau Ribera, Allison Clatch, Susan Christo, Charis E. Teh, Andrew J. Mitchell, Marie Trussart, Lucille Rankin, Andreas Obers, Jackson A. McDonald, Kate D. Sutherland, Varun J. Sharma, Graham Starkey, Rohit D’Costa, Phillip Antippa, Tracy Leong, Daniel Steinfort, Louis Irving, Charles Swanton, Claire L. Gordon, Laura K. Mackay, Terence P. Speed, Daniel H.D. Gray, Marie-Liesse Asselin-Labat
Publikováno v:
Cancer Cell. 41:837-852.e6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55a7e054ea4de69620d3e84f093404ed
https://doi.org/10.1016/j.ccell.2023.03.019
https://doi.org/10.1016/j.ccell.2023.03.019