Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Simei Wang"'
Autor:
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu
Publikováno v:
Heliyon, Vol 10, Iss 4, Pp e26743- (2024)
Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants
Externí odkaz:
https://doaj.org/article/4f9b7bec3246402fa31bcd953e0ae070
Autor:
Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, Yucai Chen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Lysine acetyltransferase 6B (KAT6B) encodes a highly conserved histone acetyltransferase that regulates the expression of multiple genes and is essential for human growth and development. Methods We identified a novel frameshift v
Externí odkaz:
https://doaj.org/article/248af0dbeef44c17913336d1b8e29dca
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:
Jiakuan Liu, Meiqian Li, Jiajun Wu, Qi Qi, Yang Li, Simei Wang, Shengjie Liang, Yuqing Zhang, Zhitao Zhu, Ruimin Huang, Jun Yan, Rujian Zhu
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Aberrant sialylation is frequently observed in tumor development, but which sialyltransferases are involved in this event are not well known. Herein, we performed comprehensive analyses on six ST3GAL family members, the α-2,3 sialyltransferases, in
Externí odkaz:
https://doaj.org/article/8a4d49da0e624fde8c1158eb974371ef
Autor:
Jiaxuan Li, Yiming Long, Jingya Sun, Jiajun Wu, Xiao He, Simei Wang, Xiongbiao Wang, Xiayi Miao, Ruimin Huang, Jun Yan
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Sialylation aberration has been implicated in lung cancer development by altering signaling pathways. Hence, it is urgent to identify key sialyltransferases in the development of lung adenocarcinoma (LUAD), which is a common malignant subtype of non-
Externí odkaz:
https://doaj.org/article/3924f994cef841c18ff6d3125a22e7e4
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