Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Quanmei Xu"'
Autor:
Xiaoang Sun, Meiyan Liu, Xiaona Luo, Fang Yuan, Chunmei Wang, Simei Wang, Quanmei Xu, Yuanfeng Zhang, Yucai Chen
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background Research on myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated disease (MOGAD) among Chinese children is relatively rare. Therefore, this study aimed to explore and analyze the clinical characteristics and prognoses
Externí odkaz:
https://doaj.org/article/bc179294ba5c43348ef058f750af1964
Autor:
Yilin Wang, Chunmei Wang, Meiyan Liu, Wuhen Xu, Simei Wang, Fang Yuan, Xiaona Luo, Quanmei Xu, Rongrong Yin, Anqi Wang, Miao Guo, Longlong Lin, Chao Wang, Hongyi Cheng, Zhiping Liu, Yuanfeng Zhang, Fanyi Zeng, Jingbin Yan, Yucai Chen
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a rare neurotransmitter disease. The decrease in dopamine caused by tyrosine hydroxylase (TH) gene mutation may lead to dystonia, tremor and severe encephalopathy in children. Although
Externí odkaz:
https://doaj.org/article/b4c72c20fa7b4310acb4c5086f031a5c
Autor:
Meiyan Liu, Xiaoang Sun, Longlong Lin, Xiaona Luo, Simei Wang, Chunmei Wang, Yuanfeng Zhang, Quanmei Xu, Wuhen Xu, Shengnan Wu, Xiaoping Lan, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundProline-rich transmembrane protein 2 (PRRT2) plays an important role in the central nervous system and mutations in the gene are implicated in a variety of neurological disorders. This study aimed to summarize the clinical characteristics a
Externí odkaz:
https://doaj.org/article/670301d0ffc2493382032d19678ff992
Autor:
Xiaona Luo, Yilin Wang, Fang Yuan, Longlong Lin, Anqi Wang, Chao Wang, Miao Guo, Simei Wang, Chunmei Wang, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Zhiping Liu, Wuhen Xu, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102798- (2022)
Epilepsy of infancy with migrating focal seizures (EIMFS) is a kind of epileptic encephalopathy with high genetic heterogeneity. The most common pathogenic gene for EIMFS is potassium sodium-activated channel subfamily T member 1 (KCNT1). Using Senda
Externí odkaz:
https://doaj.org/article/1dc604a960284801bdf68e662f6e9500
Autor:
Simei Wang, Quanmei Xu, Anqi Wang, Fang Yuan, Xiaona Luo, Yilin Wang, Miao Guo, Yuanfeng Zhang, Wenjing Zhang, Xiaobing Ji, Yun Ren, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo explore the correlation between serum 25-hydroxyvitamin D levels and tic disorders (TDs) in Chinese children.MethodsWe selected 2960 children with TD and 2665 healthy controls, aged 5–14 years, from the Department of Neurology of the Sh
Externí odkaz:
https://doaj.org/article/bf12387f85394fd2b7937a6e513d084a
Autor:
Chunmei Wang, Yilin Wang, Wuhen Xu, Xuefeng Lin, Jiaming Xi, Simei Wang, Longlong Lin, Fang Yuan, Anqi Wang, Chao Wang, Xiaona Luo, Quanmei Xu, Rongrong Yin, Yuanfeng Zhang, Xiaoyi Huang, Yucai Chen
Publikováno v:
Stem Cell Research, Vol 59, Iss , Pp 102621- (2022)
Aristaless-related homeobox (ARX)-related disorders are recessive X-linked intellectual disability disorders. We encountered a patient with a hemizygous mutation (c.1507_1508del) showing intellectual disability, early-onset epileptic encephalopathy a
Externí odkaz:
https://doaj.org/article/c84f59a0d89241e687288fd4ac511985
Autor:
Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations
Externí odkaz:
https://doaj.org/article/6939934fb6e9403f8f54ed0089c01920
Autor:
Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Xiaona Luo, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Chunmei Wang, Miao Guo, Yuanfeng Zhang, Jiaming Xi, Jie Yang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102292- (2021)
Mental retardation, X-linked 21/34 (MRX21/34), is a rare intellectual disability disease caused by mutations in the IL1RAPL1 (Interleukin-1 Receptor Accessory Protein-Like 1) gene. Using Sendai virus-mediated reprogramming, we established an induced
Externí odkaz:
https://doaj.org/article/e6bd3271acae4c959b3c8b6e82b8f793
Autor:
Anqi Wang, Jiaming Xi, Fang Yuan, Yilin Wang, Simei Wang, Chunmei Wang, Chao Wang, Longlong Lin, Xiaona Luo, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Xiaomin Sun, Jie Yang, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Stem Cell Research, Vol 46, Iss , Pp 101872- (2020)
Allan–Herndon–Dudley syndrome (AHDS) is a rare, X-chromosome-linked inherited disorder that affects brain development and is caused by a mutation in SLC16A2. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral bl
Externí odkaz:
https://doaj.org/article/4e42ab81fb3f41be9c1d3460735dbb90
Autor:
Yilin Wang, Fang Yuan, Anqi Wang, Chao Wang, Longlong Lin, Simei Wang, Chunmei Wang, Xiaona Luo, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Xiaomin Sun, Jiaming Xi, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Stem Cell Research, Vol 46, Iss , Pp 101838- (2020)
Mediator complex subunit 12 (MED12)-related disorders are recessive-X-linked intellectual disabilities present primarily in male patients. We came across a female patient with a heterozygous mutation (c.1249-1G > C) related to MED12-related syndrome.
Externí odkaz:
https://doaj.org/article/c0847119f00948b082c2ebce9ddbb597