Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Jingbin Yan"'
Autor:
Xiumei Yan, Jingbin Yan, Qiangwei Xiang, Huan Dai, Yinghui Wang, Lingjuan Fang, Kaiyu Huang, Weixi Zhang
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-8 (2023)
Abstract Background The prevalence of food allergies (FA) has been steadily increasing over 2 to 3 decades, showing diverse symptoms and rising severity. These long-term outcomes affect children’s growth and development, possibly linking to inflamm
Externí odkaz:
https://doaj.org/article/a0ef1a22fa0d4ed8bc140009bf89c74f
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:
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:
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:
Xiaona Luo, Xiaoang Sun, Yilin Wang, Longlong Lin, Fang Yuan, Simei Wang, Wenjing Zhang, Xiaobing Ji, Meiyan Liu, Shengnan Wu, Xiaoping Lan, Jie Zhang, Jingbin Yan, Fanyi Zeng, Yucai Chen
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: The chromodomain helicase DNA-binding protein 2 (CHD2) gene, is an ATPase and part of the CHD family of chromatin remodelers. Mutations in the CHD2 gene are inherited in an autosomal-dominant manner and can lead to intellectual disability
Externí odkaz:
https://doaj.org/article/97f6639bab4744f8bed5ed741c3ba30f
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 12, p e1009630 (2021)
RNA editing is a co- or post-transcriptional modification through which some cells can make discrete changes to specific nucleotide sequences within an RNA molecule after transcription. Previous studies found that RNA editing may be critically involv
Externí odkaz:
https://doaj.org/article/db98fbbef08d4887b389e87e09756054
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