Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Jun-pu Mei"'
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Akademický článek
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study
Autor: Hong-xu Pan, Yu-wen Zhao, Jun-pu Mei, Zheng-huan Fang, Yige Wang, Xun Zhou, Yang-jie Zhou, Rui Zhang, Kai-lin Zhang, Li Jiang, Qian Zeng, Yan He, Zheng Wang, Zhen-hua Liu, Qian Xu, Qi-ying Sun, Yang Yang, Ya-cen Hu, Ya-se Chen, Juan Du, Li-fang Lei, Hai-nan Zhang, Chun-yu Wang, Xin-xiang Yan, Lu Shen, Hong Jiang, Jie-qiong Tan, Jin-chen Li, Bei-sha Tang, Ji-feng Guo
Publikováno v: Translational Neurodegeneration, Vol 9, Iss 1, Pp 1-12 (2020)
Abstract Background Common and rare variants of guanosine triphosphate cyclohydrolase 1 (GCH1) gene may play important roles in Parkinson’s disease (PD). However, there is a lack of comprehensive analysis of GCH1 genotypes, especially in non-coding
Externí odkaz: https://doaj.org/article/e37c50f7cbe541038d65d3dfff802d0e
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2
Akademický článek
Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.
Autor: Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-da Li, Kun Xia, Xin-xiang Yan, Bei-sha Tang
Publikováno v: PLoS ONE, Vol 9, Iss 9, p e106388 (2014)
Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, w
Externí odkaz: https://doaj.org/article/5a3845f214574d7989c12c8fb6c74c8f
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3
Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease
Autor: Jifeng Guo, Xinxiang Yan, Yang Yang, Jun-pu Mei, Qian Xu, Rui Zhang, Li Jiang, Yuwen Zhao, Jinchen Li, Hongxu Pan, Beisha Tang, Qiying Sun, Jieqiong Tan
Publikováno v: Neurobiology of Aging. 110:106-112
NUS1 has been recently identified as a candidate gene for Parkinson's disease (PD). Few studies have examined the association of NUS1 variants with PD susceptibility and phenotypes. In the first cohort, whole-exome sequencing was performed to identif
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033e1c4484400328dfed4c904151e13c
https://doi.org/10.1016/j.neurobiolaging.2021.09.003
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4
Low-frequency and rare coding variants of NUS1 contribute to pathogenesis and phenotype of Parkinson’s disease: a case-control study
Autor: Hongxu Pan, Ji-Feng Guo, Rui Zhang, Li Jiang, Jie-qiong Tan, Bei-sha Tang, Xin-xiang Yan, Jun-pu Mei, Yang Yang, Qian Xu, Jin-chen Li, Qi-ying Sun, Yuwen Zhao
Background NUS1 has recently been identified as a candidate risk gene for Parkinson’s disease (PD), but the contribution of NUS1 rare and low-frequency variants to PD susceptibility and phenotypes is largely unknown. Methods In our case-control stu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7f3f7d858d1e907c861caa9491f6da3a
https://doi.org/10.21203/rs.3.rs-51745/v1
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5
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study
Autor: Juan Du, Jun-pu Mei, Li Jiang, Xun Zhou, Hong Jiang, Jinchen Li, Jieqiong Tan, Lu Shen, Hainan Zhang, Yangjie Zhou, Qian Xu, Yuwen Zhao, Yacen Hu, Zhenhua Liu, Zhenghuan Fang, Lifang Lei, Rui Zhang, Yige Wang, Qiying Sun, Ji-Feng Guo, Yan He, Chunyu Wang, Ya-Se Chen, Kai-Lin Zhang, Zheng Wang, Qian Zeng, Xinxiang Yan, Yang Yang, Hongxu Pan, Beisha Tang
Publikováno v: Translational Neurodegeneration
Translational Neurodegeneration, Vol 9, Iss 1, Pp 1-12 (2020)
Background Common and rare variants of guanosine triphosphate cyclohydrolase 1 (GCH1) gene may play important roles in Parkinson’s disease (PD). However, there is a lack of comprehensive analysis of GCH1 genotypes, especially in non-coding regions.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b6678bd757326bb307ff9fe91ba2624
http://europepmc.org/articles/PMC7401216
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10
Coding mutations in NUS1 contribute to Parkinson’s disease
Autor: Zhengmao Hu, Yi-qi Jiang, Qiying Sun, Huaibin Cai, Ranhui Duan, Jia Chen, Yuwen Zhao, Hui Guo, Jun-pu Mei, Kun Xia, Piu Chan, Hong Jiang, Xiongwei Zhu, Beisha Tang, Chao Chen, Shuai Cheng Li, Feng-yu Zhang, Qian Xu, Jin Xue, Xinxiang Yan, Guanghui Wang, Chunyu Liu, Guo-hua Zhao, Lu Shen, Jingyu Liu, Kai Li, Tao Wang, Jia-Da Li, Zhenyu Yue, Zuo-bin Zhu, Xiaodong Fang, Xue-feng Xie, Xue-li Wu, Si-long Sun, Lu Zhang, Huifang Shang, Jifeng Guo, Xia Tang, Zhuohua Zhang, Zhenhua Liu
Publikováno v: Proceedings of the National Academy of Sciences. 115:11567-11572
Whole-exome sequencing has been successful in identifying genetic factors contributing to familial or sporadic Parkinson’s disease (PD). However, this approach has not been applied to explore the impact of de novo mutations on PD pathogenesis. Here
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c20993a67d0c96a2e8a256934bf59750
https://doi.org/10.1073/pnas.1809969115
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