Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Yi‐Wu Shi"'
Autor:
Wen-Hui Liu, Sheng Luo, Dong-Ming Zhang, Zi-Sheng Lin, Song Lan, Xin Li, Yi-Wu Shi, Tao Su, Yong-Hong Yi, Peng Zhou, Bing-Mei Li
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2024)
BackgroundThe GABRA1 gene, encoding the GABRAR subunit α1, plays vital roles in inhibitory neurons. Previously, the GABRA1 gene has been identified to be associated with developmental and epileptic encephalopathy (DEE) and idiopathic generalized epi
Externí odkaz:
https://doaj.org/article/195c5ab356b64b6b941962eaffb4072e
Autor:
Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao
Publikováno v:
Clinical and Translational Medicine, Vol 13, Iss 6, Pp n/a-n/a (2023)
Abstract Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and m
Externí odkaz:
https://doaj.org/article/b7aa36b3436b4440a085e851cb780fae
Autor:
Xue-Lian Li, Zong-Jun Li, Xiao-Yu Liang, De-Tian Liu, Mi Jiang, Liang-Di Gao, Huan Li, Xue-Qing Tang, Yi-Wu Shi, Bing-Mei Li, Na He, Bin Li, Wen-Jun Bian, Yong-Hong Yi, Chuan-Fang Cheng, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
PurposePreviously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2. To determine the relationship between CACNA1A and ep
Externí odkaz:
https://doaj.org/article/981aa0573eed479999bed5b81e0a9a97
Autor:
Wen-Bin Li, Nan-Xiang Shen, Chao Zhang, Huan-Cheng Xie, Zong-Yan Li, Li Cao, Li-Zhi Chen, Yuan-jin Zeng, Cui-Xia Fan, Qian Chen, Yi-Wu Shi, Xing-Wang Song
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight P
Externí odkaz:
https://doaj.org/article/4b3c1263d5d345f4a8900d051b8c1342
Autor:
Jie Wang, Sarah Poliquin, Felicia Mermer, Jaclyn Eissman, Eric Delpire, Juexin Wang, Wangzhen Shen, Kefu Cai, Bing-Mei Li, Zong-Yan Li, Dong Xu, Gerald Nwosu, Carson Flamm, Wei-Ping Liao, Yi-Wu Shi, Jing-Qiong Kang
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-15 (2020)
Abstract Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene muta
Externí odkaz:
https://doaj.org/article/cbe6c3611641421f8f2d03e15a5876da
Autor:
Xiao-Rong Liu, Xing-Xing Xu, Si-Mei Lin, Cui-Ying Fan, Ting-Ting Ye, Bin Tang, Yi-Wu Shi, Tao Su, Bing-Mei Li, Yong-Hong Yi, Jian-Hong Luo, Wei-Ping Liao
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic generalized epilepsies and the potential underlying mechanism for phenotypic variation.Methods: Whole-exome sequencing was performed in a cohort of 88 patients
Externí odkaz:
https://doaj.org/article/b804738b5f7a465d8119396683083633
Autor:
Yi-Wu Shi, Jie Wang, Fu-Li Min, Wen-Jun Bian, Bi-Jun Mao, Yong Mao, Bing Qin, Bing-Mei Li, Yang-Mei Ou, Yun-Qi Hou, Xin Zou, Bao-Zhu Guan, Na He, Yong-Jun Chen, Xue-Lian Li, Juan Wang, Wei-Yi Deng, Han-Kui Liu, Nan-Xiang Shen, Xiao-Rong Liu, Yong-Hong Yi, Lie-Min Zhou, Dong Zhou, Patrick Kwan, Wei-Ping Liao
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
To characterize human leukocyte antigen (HLA) loci as risk factors in aromatic antiepileptic drug-induced maculopapular exanthema (AED-MPE). A case-control study was performed to investigate HLA loci involved in AED-MPE in a southern Han Chinese popu
Externí odkaz:
https://doaj.org/article/b2d52788d724455490d24acdd1a03ac9
Autor:
Mei-Gang Ma, Xiao-Rong Liu, Yuan Wu, Jie Wang, Bing-Mei Li, Yi-Wu Shi, Tao Su, Bin Li, De-Tian Liu, Yong-Hong Yi, Wei-Ping Liao
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 protein is ubiquitously distributed and highly expressed in the heart and brain. P
Externí odkaz:
https://doaj.org/article/6b8b8b71afc246b392493852936076e1
Autor:
Xiao-Rong Liu, Wen-Jun Bian, Jie Wang, Ting-Ting Ye, Bing-Mei Li, De-Tian Liu, Bin Tang, Wei-Wen Deng, Yi-Wu Shi, Tao Su, Yong-Hong Yi, Wei-Ping Liao
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
IntroductionIdiopathic focal epilepsy (IFE) is a group of self-limited epilepsies. The etiology for the majority of the patients with IFE remains elusive. We thus screened disease-causing variants in the patients with IFE.MethodsWhole-exome sequencin
Externí odkaz:
https://doaj.org/article/da75918c6dff4a3c8196714c29215396
Autor:
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)
Abstract Background Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15–35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut synd
Externí odkaz:
https://doaj.org/article/0266287b00834141a41a5c633b20bde7