Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Marina Kennerson"'
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Jui-Yu Yeh, Hua-Chuan Chao, Cheng-Li Hong, Yu-Chien Hung, Fei-Yang Tzou, Cheng-Tsung Hsiao, Jeng-Lin Li, Wen-Jie Chen, Cheng-Ta Chou, Yu-Shuen Tsai, Yi-Chu Liao, Yu-Chun Lin, Suewei Lin, Shu-Yi Huang, Marina Kennerson, Yi-Chung Lee, Chih-Chiang Chan
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 5, Pp 1091-1114 (2024)
Abstract PAR3/INSC/LGN form an evolutionarily conserved complex required for asymmetric cell division in the developing brain, but its post-developmental function and disease relevance in the peripheral nervous system (PNS) remains unknown. We mapped
Externí odkaz:
https://doaj.org/article/5359f09eb23c4e93a0c5ca897d7a0804
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/3d3a73f27b2c489eb0df7f7ab3fdcbf8
Autor:
Alvaro Gonzalez Rajal, Kamila A Marzec, Rachael A McCloy, Max Nobis, Venessa Chin, Jordan F Hastings, Kaitao Lai, Marina Kennerson, William E Hughes, Vijesh Vaghjiani, Paul Timpson, Jason E Cain, D Neil Watkins, David R Croucher, Andrew Burgess
Publikováno v:
eLife, Vol 10 (2021)
We previously used a pulse-based in vitro assay to unveil targetable signalling pathways associated with innate cisplatin resistance in lung adenocarcinoma (Hastings et al., 2020). Here, we advanced this model system and identified a non-genetic mech
Externí odkaz:
https://doaj.org/article/2218265a2a26450eb03d27ef3e339032
Autor:
Maleeha, Akram, David J, Handelsman, Mazhar, Qayyum, Marina, Kennerson, Sania, Rauf, Shahid, Ahmed, Osama, Ishtiaq, Muhammad, Ismail, Qaisar, Mansoor, Afzaal Ahmed, Naseem, Syed Shakeel Raza, Rizvi
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1410-1421
Objectives Although at least 598 genes are involved in the development of the hypothalamo–pituitary–testicular (HPT) axis, mutations in only 75 genes have so far been shown to cause delayed puberty. Methods Six male patients with failed puberty,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3e34643489649d11d3c34312ced0d5
https://doi.org/10.1515/jpem-2022-0254
https://doi.org/10.1515/jpem-2022-0254
Autor:
Rebecca Meyer-Schuman, Sheila Marte, Tyler J. Smith, Shawna M.E. Feely, Marina Kennerson, Garth Nicholson, Mike E. Shy, Kristin S. Koutmou, Anthony Antonellis
Publikováno v:
Human Molecular Genetics.
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that ligate tRNA molecules to their cognate amino acids. Heterozygosity for missense variants or small in-frame deletions in five ARS genes causes axonal peripheral neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c6c8f57e067217c5125f5667dc5ac0
https://doi.org/10.1093/hmg/ddad054
https://doi.org/10.1093/hmg/ddad054
Autor:
Antonia Carroll, P James Dyck, Mamede de Carvalho, Marina Kennerson, Mary M Reilly, Matthew C Kiernan, Steve Vucic
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:668-678
© Author(s) (or their employer(s)) 2022. Open access This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10d54e6f628b94fbe3ae16b56b2ce332
https://doi.org/10.1136/jnnp-2021-327909
https://doi.org/10.1136/jnnp-2021-327909
Autor:
Ramesh K. Narayanan, Ajay Panwar, Tim J. Butler, Anthony N. Cutrupi, Marina Kennerson, Steve Vucic, Ashokkumar Balasubramaniem, Marie Mangelsdorf, Robyn H. Wallace
Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). TDP-43 binds to and regulates splicing of several RNA includingZmynd11. Zmynd11 is a transcriptional repressor and a potential E3 ubiquitin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92395ea8524b76108167c81d854e298a
https://doi.org/10.1101/2022.12.11.519991
https://doi.org/10.1101/2022.12.11.519991
Autor:
Silvia Cipriani, Marta Guerrero‐Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bähler, Alessandra Bolino
Publikováno v:
European journal of neurologyREFERENCES. 30(2)
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df087f59a36e550dbf68e45a32da7fd9
https://pubmed.ncbi.nlm.nih.gov/36260368
https://pubmed.ncbi.nlm.nih.gov/36260368
Autor:
Jin He, Xiao‐Xuan Liu, Ming‐Ming Ma, Jing‐Jing Lin, Jun Fu, Yi‐Kun Chen, Guo‐Rong Xu, Liu‐Qing Xu, Zhi‐Fei Fu, Dan Xu, Wen‐Feng Chen, Chun‐Yan Cao, Yan Shi, Yi‐Heng Zeng, Jing Zhang, Xiao‐Chun Chen, Ru‐Xu Zhang, Ning Wang, Marina Kennerson, Dong‐Sheng Fan, Wan‐Jin Chen
Publikováno v:
Annals of neurologyReferences.
Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a94aaebeb3fb265fbe72b211e64e423
https://pubmed.ncbi.nlm.nih.gov/36088542
https://pubmed.ncbi.nlm.nih.gov/36088542