Zobrazeno 1 - 10
of 361
pro vyhledávání: '"Edwin, Chan"'
Autor:
Zhefan Stephen Chen, Mingxi Ou, Stephanie Taylor, Ruxandra Dafinca, Shaohong Isaac Peng, Kevin Talbot, Ho Yin Edwin Chan
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract The GGGGCC hexanucleotide repeat expansion mutation in the chromosome 9 open reading frame 72 (C9orf72) gene is a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). In this study, we demonstrate tha
Externí odkaz:
https://doaj.org/article/b3e750fa439f44bc949df9182694974b
Autor:
Yu Jun Wong, Chin Kimg Tan, Yuen Lin Yii, Yoko Wong, Yew Chong Tam, Edwin Chan, Juan G. Abraldes
Publikováno v:
Portal Hypertension & Cirrhosis, Vol 1, Iss 3, Pp 167-177 (2022)
Abstract Objective Emerging evidence suggest that antibiotic prophylaxis may be omitted in early cirrhosis patients with upper gastrointestinal bleeding (UGIB), which question the benefits of antibiotic prophylaxis on rebleeding, mortality related to
Externí odkaz:
https://doaj.org/article/45242a08a0934221aaa1a1a14744350e
Autor:
Shaohong Isaac Peng, Lok I. Leong, Jacquelyne Ka-Li Sun, Zhefan Stephen Chen, Hei-Man Chow, Ho Yin Edwin Chan
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 102-115 (2022)
Polyglutamine (polyQ) diseases, including spinocerebellar ataxias and Huntington’s disease, are progressive neurodegenerative disorders caused by CAG triplet-repeat expansion in the coding regions of disease-associated genes. In this study, we foun
Externí odkaz:
https://doaj.org/article/742fe03b25504f89bb4861cfdbe55b3d
Autor:
Santorelli, Filippo M., McLoughlin, Hayley S., Wolter, Justin M., Galatolo, Daniele, Synofzik, Matthis, Mengel, David, Opal, Puneet, Irina, Antonijevic, Georg, Auburger, Luis, Bataller, Enrico, Bertini, Sylvia, Boesch, Samantha, Boeshore, Ronald, Buijsen, Edwin, Chan, Giulia, Coarelli, Nicolas, Dupré, Alexandra, Durr, Andreas, Eigentler, Ewelina, Elert-Dobkowska
Publikováno v:
Cerebellum; Jun2024, Vol. 23 Issue 3, p881-886, 6p
Publikováno v:
Cell Death and Disease, Vol 12, Iss 2, Pp 1-19 (2021)
Abstract Polyglutamine (polyQ) diseases comprise Huntington’s disease and several subtypes of spinocerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3). The genomic expansion of coding CAG trinucleotide sequence in disease genes leads
Externí odkaz:
https://doaj.org/article/ce016e87a79b40d29b9c705bf2379d0c
Autor:
Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive conge
Externí odkaz:
https://doaj.org/article/b8c746913ddd48ba939b314929b99bd2
Autor:
Lei Zhao, Zhongqi Li, Joaquim S. L. Vong, Xinyi Chen, Hei-Ming Lai, Leo Y. C. Yan, Junzhe Huang, Samuel K. H. Sy, Xiaoyu Tian, Yu Huang, Ho Yin Edwin Chan, Hon-Cheong So, Wai-Lung Ng, Yamei Tang, Wei-Jye Lin, Vincent C. T. Mok, Ho Ko
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Blood–brain barrier dysfunction occurs in ageing and in neurodegenerative diseases. Here, the authors use scRNA-seq to identify transcriptomic changes in endothelial cell subtypes in the aged mouse brain, some of which may generalize to human and c
Externí odkaz:
https://doaj.org/article/0cd6b88e4d0b4038b2b9807cac7e8608
Publikováno v:
Guoji Yanke Zazhi, Vol 20, Iss 5, Pp 754-758 (2020)
AIM: To report the therapeutic outcomes of botulinum toxin A(Botox)and eyelid surgery in patients with hemifacial spasm(HFS).METHODS: Patients' images and medical notes were retrospectively reviewed with subsequent analysis of both the therapeutic ou
Externí odkaz:
https://doaj.org/article/52a46a9430ca4123bc651ddffaf9a70e
Publikováno v:
Clinical and Molecular Hepatology, Vol 26, Iss 2, Pp 142-154 (2020)
Drug induced liver injury (DILI) may be different in the East compared to the West due to differing disease prevalence, prescribing patterns and pharmacogenetic profiles. To review existing literature on causative agents of DILI in the East compared
Externí odkaz:
https://doaj.org/article/3be2bac8a221485299e4a5454df9dc15
Publikováno v:
Journal of Acute Disease, Vol 9, Iss 5, Pp 227-230 (2020)
Rationale: Primary adenocarcinoma of the lacrimal gland is rare, and its presentation as corneal perforation is even rarer. Corneal perforation is an ocular emergency that warrants urgent ophthalmic surgery, yet complete staging of lacrimal gland tum
Externí odkaz:
https://doaj.org/article/c27391532cc0424bb32716b6e4dbf6d0