Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Alexander P Drew"'
Autor:
Rebecca J. Rockett, Jenny Draper, Mailie Gall, Eby M. Sim, Alicia Arnott, Jessica E. Agius, Jessica Johnson-Mackinnon, Winkie Fong, Elena Martinez, Alexander P. Drew, Clement Lee, Christine Ngo, Marc Ramsperger, Andrew N. Ginn, Qinning Wang, Michael Fennell, Danny Ko, Linda Hueston, Lukas Kairaitis, Edward C. Holmes, Matthew N. O’Sullivan, Sharon C.-A. Chen, Jen Kok, Dominic E. Dwyer, Vitali Sintchenko
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-7 (2022)
Here, using genomic approaches, Rockett et al. identify Omicron and Delta SARS-CoV-2 co-infections in two adults, highlighting the usefulness of genomic surveillance for the timely recognition of co-infections in situations when different variants of
Externí odkaz:
https://doaj.org/article/38f87202ab14461b82215251ef687d21
Autor:
Carl J. E. Suster, Alicia Arnott, Grace Blackwell, Mailie Gall, Jenny Draper, Elena Martinez, Alexander P. Drew, Rebecca J. Rockett, Sharon C.-A. Chen, Jen Kok, Dominic E. Dwyer, Vitali Sintchenko
Publikováno v:
Frontiers in Public Health, Vol 10 (2022)
Genomic surveillance of SARS-CoV-2 has been essential to inform public health response to outbreaks. The high incidence of infection has resulted in a smaller proportion of cases undergoing whole genome sequencing due to finite resources. We present
Externí odkaz:
https://doaj.org/article/d01f1ef409bf462c8dbaf704c2cd6af4
Autor:
Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson
Publikováno v:
Neurobiology of Disease, Vol 94, Iss , Pp 237-244 (2016)
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. An X-linked form of CMT (CMTX6) is caused by a missense mutation (R158H) in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. PDK3 is one of 4 isoenzymes t
Externí odkaz:
https://doaj.org/article/b46098c9fc4a4bae8101113cf887d568
Autor:
Velimir Gayevskiy, Peter Ian Andrews, Rani Sachdev, Sarah K. Kummerfeld, Tony Roscioli, John A. Lawson, Edwin P. Kirk, Uirá Souto Melo, Sarah Righetti, Senel Idrisoglu, Monica Hong Ngoc Thai, Marcel E. Dinger, Alexander P. Drew, Rebecca Macintosh, Tejaswi Kandula, André E. Minoche, Ann M. E. Bye, Hugo Sampaio, Clare Puttick, Michael Cardamone, Cheryl Shoubridge, Luke B. Hesson, Alison Colley, Elizabeth E. Palmer, Stefan Mundlos, Mark J. Cowley, David Mowat, Ryan L. Davis
Publikováno v:
Neurology. 96:e1770-e1782
ObjectiveTo assess the benefits and limitations of whole genome sequencing (WGS) compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis of developmental and epileptic encephalopathies (DEE).MethodsWe performed WGS of 30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4224f0a235c0603db68a262dd8eab5b4
https://doi.org/10.1212/wnl.0000000000011655
https://doi.org/10.1212/wnl.0000000000011655
Autor:
Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006177 (2016)
With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locu
Externí odkaz:
https://doaj.org/article/802b16d3182947d1825f4f2b2b24e1d9
Autor:
Rebecca J Rockett, Jenny Draper, Mailie Gall, Eby M Sim, Alicia Arnott, Jessica E Agius, Jessica Johnson-Mackinnon, Elena Martinez, Alexander P Drew, Clement Lee, Christine Ngo, Marc Ramsperger, Andrew N Ginn, Qinning Wang, Michael Fennell, Danny Ko, Linda Huston, Lukas Kairaitis, Edward C Holmes, Matthew N O’Sullivan, Sharon C-A Chen, Jen Kok, Dominic E Dwyer, Vitali Sintchenko
We identified the co-infection of the SARS-CoV-2 Omicron and Delta variants in two epidemiologically unrelated patients with chronic kidney disease requiring haemodialysis. Both SARS-CoV-2 variants were co-circulating locally at the time of detection
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5659be34301df3c119d2744e4ae76a0e
https://hdl.handle.net/2123/28444
https://hdl.handle.net/2123/28444
Publikováno v:
Neuromuscular disorders : NMD. 31(11)
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular dystrophy type 2 (FSHD2) accounts for approximately 5% of all cases of FSHD and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e698adb5e36b953213cbf47d3f0e0de
https://pubmed.ncbi.nlm.nih.gov/34711481
https://pubmed.ncbi.nlm.nih.gov/34711481
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
Autor:
Aurélie Méneret, Manju A. Kurian, Michael C. Kruer, Alexander P. Drew, Niccolo E. Mencacci, Jean Madeleine de Sainte Agathe, Juliane Winkelmann, Lisa G. Riley, Sylvia Boesch, Saskia Biskup, Pedro Gonzalez-Alegre, Sheng Chih Jin, Janine Reunert, Sophie Reining, Kishore R. Kumar, Matthias Baumann, Riccardo Berutti, Fabienne Clot, Marie Vidailhet, Victor S.C. Fung, Thorsten Marquardt, Steven J. Lubbe, Robert Adam, Somayeh Bakhtiari, Tanya Bardakjian, Nicolas Derive, Ignacio Juan Keller Sarmiento, Michel Tchan, Michael Zech
Publikováno v:
Movement Disorders
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)
BACKGROUND Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene-disease relationships can be challenging. OBJECTIVE We sought to expand the catalogue of monogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8656fdccf99b551bfb684e673c1760a4
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf
Autor:
Christopher G. Proud, Maté Biro, Sarah K. Kummerfeld, Szun S. Tay, Jorge Luis Galeano Niño, Matt A Govendir, Alexander P. Drew, Daryan Kempe, Feyza Colakoglu, Jessica K Mazalo, Jacqueline Le Tearle, Jianling Xie
Publikováno v:
Journal of cell science. 133(5)
It has become increasingly evident that T cell functions are subject to translational control in addition to transcriptional regulation. Here, by using live imaging of CD8+ T cells isolated from the Lifeact-EGFP mouse, we show that T cells exhibit a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db3c7e1a399391668327cc6e4ddbad5
https://pubmed.ncbi.nlm.nih.gov/32041902
https://pubmed.ncbi.nlm.nih.gov/32041902
Autor:
Tejaswi Kandula, Maria J. Guillen Sacoto, Mais Hashem, Saima Kayani, André E. Minoche, Edwin P. Kirk, Łukasz Jaremko, Heba M. Jalal Ahmed, Marwan Shinawi, Elizabeth E. Palmer, Christel Thauvin, Molly Snyder, Mark J. Cowley, Muddathir H Hamad, Maria Mercedes Villanueva, Seungbeom Hong, Fatema Al Zahrani, Laurence Faivre, Suliat F. Yakubu, Ann M. E. Bye, Velimir Gayevskiy, Megan T. Cho, Jasmeen S. Merzaban, Marisa V. Andrews, Alexander P. Drew, Ruth E. Bristol, Jill A. Rosenfeld, Stefan T. Arold, Lindsay B. Henderson, Antonio Vitobello, Tony Roscioli, Clare Puttick, Mariusz Jaremko, Rui Xiao, Fajr A. Aleisa, Amber Begtrup, Marilyn C. Jones, Fowzan S. Alkuraya, Rebecca Macintosh, Marcel E. Dinger, Kristin Lindstrom, Rani Sachdev, Angeles Schteinschnaider
Publikováno v:
American journal of human genetics, vol 104, iss 3
Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db127783b1fb1ce2a655ab86e5d0fed4
https://europepmc.org/articles/PMC6407605/
https://europepmc.org/articles/PMC6407605/