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16. Coding mutations in NUS1 contribute to Parkinson’s disease

Author

Guo, Ji-feng, Zhang, Lu, Li, Kai, Mei, Jun-pu, Xue, Jin, Chen, Jia, Tang, Xia, Shen, Lu, Jiang, Hong, Chen, Chao, Guo, Hui, Wu, Xue-li, Sun, Si-long, Xu, Qian, Sun, Qi-ying, Chan, Piu, Shang, Hui-fang, Wang, Tao, Zhao, Guo-hua, Liu, Jing-yu, Xie, Xue-feng, Jiang, Yi-qi, Liu, Zhen-hua, Zhao, Yu-wen, Zhu, Zuo-bin, Li, Jia-da, Hu, Zheng-mao, Yan, Xin-xiang, Fang, Xiao-dong, Wang, Guang-hui, Zhang, Feng-yu, Xia, Kun, Liu, Chun-yu, Zhu, Xiong-wei, Yue, Zhen-yu, Li, Shuai Cheng, Cai, Huai-bin, Zhang, Zhuo-hua, Duan, Ran-hui, and Tang, Bei-sha

Published
2018

17. GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Author

Pan, Hong-xu, Zhao, Yu-wen, Mei, Jun-pu, Fang, Zheng-huan, Wang, Yige, Zhou, Xun, Zhou, Yang-jie, Zhang, Rui, Zhang, Kai-lin, Jiang, Li, Zeng, Qian, He, Yan, Wang, Zheng, Liu, Zhen-hua, Xu, Qian, Sun, Qi-ying, Yang, Yang, Hu, Ya-cen, Chen, Ya-se, Du, Juan, Lei, Li-fang, Zhang, Hai-nan, Wang, Chun-yu, Yan, Xin-xiang, Shen, Lu, Jiang, Hong, Tan, Jie-qiong, Li, Jin-chen, Tang, Bei-sha, and Guo, Ji-feng

Published
2020
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21. The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population

Author

Zhao, Yu-wen, primary, Pan, Hong-xu, additional, Liu, Zhenhua, additional, Wang, Yige, additional, Zeng, Qian, additional, Fang, Zheng-huan, additional, Luo, Teng-fei, additional, Xu, Kun, additional, Wang, Zheng, additional, Zhou, Xun, additional, He, Runcheng, additional, Li, Bin, additional, Zhao, Guihu, additional, Xu, Qian, additional, Sun, Qi-ying, additional, Yan, Xin-xiang, additional, Tan, Jie-qiong, additional, Li, Jin-chen, additional, Guo, Ji-feng, additional, and Tang, Bei-sha, additional

Published
2021
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24. UQCRC1 variants in Parkinson’s disease: a large cohort study in Chinese mainland population

Author

Zhao, Yu-wen, primary, Pan, Hong-xu, additional, Wang, Chun-yu, additional, Zeng, Qian, additional, Wang, Yige, additional, Fang, Zheng-huan, additional, Huang, Juanjuan, additional, Li, Xiaosong, additional, Wang, Xiaoye, additional, Zhang, Xi, additional, Liu, Zhen-hua, additional, Sun, Qi-ying, additional, Xu, Qian, additional, Lei, Li-fang, additional, Yan, Xin-xiang, additional, Shen, Lu, additional, Jiang, Hong, additional, Tan, Jie-qiong, additional, Li, Jin-chen, additional, Tang, Bei-sha, additional, Zhang, Hai-nan, additional, and Guo, Ji-feng, additional

Published
2021
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26. R2R3-MYB Transcription Factor MdMYB73 Confers Increased Resistance to the Fungal Pathogen Botryosphaeria dothidea in Apples via the Salicylic Acid Pathway

Author

Gu, Kai-Di, primary, Zhang, Quan-Yan, additional, Yu, Jian-Qiang, additional, Wang, Jia-Hui, additional, Zhang, Fu-Jun, additional, Wang, Chu-Kun, additional, Zhao, Yu-Wen, additional, Sun, Cui-Hui, additional, You, Chun-Xiang, additional, Hu, Da-Gang, additional, and Hao, Yu-Jin, additional

Published
2020
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27. PSAP variants in Parkinson’s disease: a large cohort study in Chinese mainland population

Author

Zhao, Yu-wen, primary, Pan, Hong-xu, additional, Zeng, Qian, additional, Fang, Zheng-huan, additional, Liu, Zhen-hua, additional, Wang, Yige, additional, Jiang, Li, additional, He, Runcheng, additional, Zhou, Xun, additional, Zhou, Yang-jie, additional, Xu, Qian, additional, Sun, Qi-ying, additional, Li, Bin, additional, Zhao, Guihu, additional, Yang, Yang, additional, Hu, Ya-cen, additional, Chen, Ya-se, additional, Du, Juan, additional, Lei, Li-fang, additional, Zhang, Hai-nan, additional, Wang, Chun-yu, additional, Yan, Xin-xiang, additional, Shen, Lu, additional, Jiang, Hong, additional, Li, Jin-chen, additional, Tang, Bei-sha, additional, Tan, Jie-qiong, additional, and Guo, Ji-feng, additional

Published
2020
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29. Additional file 5 of GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Author

Hong-Xu Pan, Zhao, Yu-Wen, Jun-Pu Mei, Zheng-Huan Fang, Yige Wang, Zhou, Xun, Yang-Jie Zhou, Zhang, Rui, Zhang, Kai-Lin, Jiang, Li, Zeng, Qian, He, Yan, Wang, Zheng, Liu, Zhen-Hua, Xu, Qian, Qi-Ying Sun, Yang, Yang, Ya-Cen Hu, Ya-Se Chen, Du, Juan, Lei, Li-Fang, Zhang, Hai-Nan, Wang, Chun-Yu, Yan, Xin-Xiang, Shen, Lu, Jiang, Hong, Jie-Qiong Tan, Jin-Chen Li, Bei-Sha Tang, and Guo, Ji-Feng

Abstract

Additional file 5 Table S5. Coding variants of GCH1 identified in two cohorts.

Published
2020
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30. Additional file 1 of GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Author

Hong-Xu Pan, Zhao, Yu-Wen, Jun-Pu Mei, Zheng-Huan Fang, Yige Wang, Zhou, Xun, Yang-Jie Zhou, Zhang, Rui, Zhang, Kai-Lin, Jiang, Li, Zeng, Qian, He, Yan, Wang, Zheng, Liu, Zhen-Hua, Xu, Qian, Qi-Ying Sun, Yang, Yang, Ya-Cen Hu, Ya-Se Chen, Du, Juan, Lei, Li-Fang, Zhang, Hai-Nan, Wang, Chun-Yu, Yan, Xin-Xiang, Shen, Lu, Jiang, Hong, Jie-Qiong Tan, Jin-Chen Li, Bei-Sha Tang, and Guo, Ji-Feng

Abstract

Additional file 1 Table S1. Targeted GCH1 regions and variants included in the study.

Published
2020
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31. Additional file 2 of GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Author

Hong-Xu Pan, Zhao, Yu-Wen, Jun-Pu Mei, Zheng-Huan Fang, Yige Wang, Zhou, Xun, Yang-Jie Zhou, Zhang, Rui, Zhang, Kai-Lin, Jiang, Li, Zeng, Qian, He, Yan, Wang, Zheng, Liu, Zhen-Hua, Xu, Qian, Qi-Ying Sun, Yang, Yang, Ya-Cen Hu, Ya-Se Chen, Du, Juan, Lei, Li-Fang, Zhang, Hai-Nan, Wang, Chun-Yu, Yan, Xin-Xiang, Shen, Lu, Jiang, Hong, Jie-Qiong Tan, Jin-Chen Li, Bei-Sha Tang, and Guo, Ji-Feng

Abstract

Additional file 2 Table S2. The quality control of the targeted GCH1 regions.

Published
2020
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32. Additional file 3 of GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

Author

Hong-Xu Pan, Zhao, Yu-Wen, Jun-Pu Mei, Zheng-Huan Fang, Yige Wang, Zhou, Xun, Yang-Jie Zhou, Zhang, Rui, Zhang, Kai-Lin, Jiang, Li, Zeng, Qian, He, Yan, Wang, Zheng, Liu, Zhen-Hua, Xu, Qian, Qi-Ying Sun, Yang, Yang, Ya-Cen Hu, Ya-Se Chen, Du, Juan, Lei, Li-Fang, Zhang, Hai-Nan, Wang, Chun-Yu, Yan, Xin-Xiang, Shen, Lu, Jiang, Hong, Jie-Qiong Tan, Jin-Chen Li, Bei-Sha Tang, and Guo, Ji-Feng

Abstract

Additional file 3 Table S3. Association analysis of common non-coding variants identified in this study.

Published
2020
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33. R2R3-MYB Transcription Factor MdMYB73 Confers Increased Resistance to the Fungal Pathogen Botryosphaeria Dothidea via the Salicylic acid Pathway in Apple

Author

Gu, Kai-Di, primary, Zhang, Quan-Yan, additional, Yu, Jian-Qiang, additional, Wang, Jia-Hui, additional, Zhang, Fu-Jun, additional, Wang, Chu-Kun, additional, Zhao, Yu-Wen, additional, Sun, Cui-Hui, additional, You, Chun-Xiang, additional, Hu, Da-Gang, additional, and Hao, Yu-Jin, additional

Published
2020
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34. Auxin response factor gene MdARF2is involved in ABA signaling and salt stress response in apple

Author

WANG, Chu-kun, ZHAO, Yu-wen, HAN, Peng-liang, YU, Jian-qiang, HAO, Yu-jin, XU, Qian, YOU, Chun-xiang, and HU, Da-gang

Abstract

Auxin response factors (ARFs) play key roles throughout the whole process of plant growth and development, and mediate auxin response gene transcription by directly binding with auxin response elements (AuxREs). However, their functions in abiotic stresses are largely limited, especially in apples. Here, the auxin response factor gene MdARF2(HF41569) was cloned from apple cultivar ‘Royal Gala’ (Malus×domesticaBorkh.). Phylogenetic analysis showed that ARF2 proteins are highly conserved among different species and MdARF2 is the closest relative to PpARF2 of Prunus persica, but they differ at the DNA level. MdARF2 contains three typical conserved domains including the B3 DNA-binding domain, Auxin_resp domain and AUX_IAA domain. The subcellular localization demonstrated that MdARF2 is localized in the nucleus. The three-dimensional structure prediction of the proteins showed that MdARF2 is highly similar with AtARF2, and they contain helices, folds, and random coils. The promoter of MdARF2contains cis-acting elements which respond to various stresses, as well as environmental and hormonal signals. Expression analysis showed that MdARF2is widely expressed in all tissues of apple, with the highest expression of MdARF2in root. Functional analysis with a series of MdARF2transgenic apple calli indicated that MdARF2can reduce the sensitivity to ABA signaling and enhance salt tolerance in apple. In summary, the results of this research provide a new basis for studying the regulation of abiotic stresses by ARFs.

Published
2022
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35. Low-frequency and rare coding variants of NUS1 contribute to pathogenesis and phenotype of Parkinson’s disease: a case-control study

Author

Jiang, Li, primary, Mei, Jun-pu, additional, Zhao, Yu-wen, additional, Zhang, Rui, additional, Pan, Hong-xu, additional, Yang, Yang, additional, Sun, Qi-ying, additional, Xu, Qian, additional, Yan, Xin-xiang, additional, Tan, Jie-qiong, additional, Li, Jin-chen, additional, Tang, Bei-sha, additional, and Guo, Jifeng, additional

Published
2020
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40. Genome-wide analysis of auxin response factor (ARF) genes and functional identification of MdARF2 reveals the involvement in the regulation of anthocyanin accumulation in apple.

Author

Wang, Chu-Kun, Han, Peng-Liang, Zhao, Yu-Wen, Yu, Jian-Qiang, You, Chun-Xiang, Hu, Da-Gang, and Hao, Yu-Jin

Subjects
ANTHOCYANINS, AUXIN, CHROMOSOME analysis, APPLES, GENES, GENE families
Abstract

Auxin response factors (ARFs) mediate auxin response gene transcription by directly binding with AuxREs. However, whether ARF family genes involved in anthocyanin accumulation in apple is largely unexplored. In this study, thirty-three MdARF family members were identified in the apple (Malus × domestica) genome (HFTH1 Whole Genome v1.0) based on the sequence similarity with ARF family members of Arabidopsis. Phylogenetic analysis revealed that thirty-three MdARF members were clustered into Class I, Class II and Class III. Functional domain analysis showed that MdARF proteins have some typical domains such as B3-like DNA-binding domain and Auxin_resp domain, as well as motif III and motif IV. Chromosome localisation analysis demonstrated that apple ARF members were widely distributed in the genome. Among these MdARF genes, MdARF2 was significantly correlated with anthocyanin variation according to extracting expression profiles from published RNA-seq data. Further functional identification in apple calli suggested that MdARF2 functions as a transcriptional repressor of anthocyanin biosynthesis. These findings provide evidence that MdARF family members play a role in the regulation of anthocyanin accumulation in apple. [ABSTRACT FROM AUTHOR]

Published
2021
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42. Genome-wide analysis of auxin response factor (ARF) genes and functional identification of MdARF2reveals the involvement in the regulation of anthocyanin accumulation in apple

Author

Wang, Chu-Kun, Han, Peng-Liang, Zhao, Yu-Wen, Yu, Jian-Qiang, You, Chun-Xiang, Hu, Da-Gang, and Hao, Yu-Jin

Abstract

ABSTRACTAuxin response factors (ARFs) mediate auxin response gene transcription by directly binding with AuxREs. However, whether ARF family genes involved in anthocyanin accumulation in apple is largely unexplored. In this study, thirty-three MdARF family members were identified in the apple (Malus × domestica) genome (HFTH1 Whole Genome v1.0) based on the sequence similarity with ARF family members of Arabidopsis. Phylogenetic analysis revealed that thirty-three MdARF members were clustered into Class I, Class II and Class III. Functional domain analysis showed that MdARF proteins have some typical domains such as B3-like DNA-binding domain and Auxin_resp domain, as well as motif III and motif IV. Chromosome localisation analysis demonstrated that apple ARF members were widely distributed in the genome. Among these MdARFgenes, MdARF2was significantly correlated with anthocyanin variation according to extracting expression profiles from published RNA-seq data. Further functional identification in apple calli suggested that MdARF2 functions as a transcriptional repressor of anthocyanin biosynthesis. These findings provide evidence that MdARF family members play a role in the regulation of anthocyanin accumulation in apple.

Published
2021
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45. R2R3-MYB Transcription Factor MdMYB73 Confers Increased Resistance to the Fungal Pathogen Botryosphaeria dothideain Apples viathe Salicylic Acid Pathway

Author

Gu, Kai-Di, Zhang, Quan-Yan, Yu, Jian-Qiang, Wang, Jia-Hui, Zhang, Fu-Jun, Wang, Chu-Kun, Zhao, Yu-Wen, Sun, Cui-Hui, You, Chun-Xiang, Hu, Da-Gang, and Hao, Yu-Jin

Abstract

MYB transcription factors (TFs) participate in many biological processes. However, the molecular mechanisms by which MYB TFs affect plant resistance to apple ring rot remain poorly understood. Here, the R2R3-MYB gene MdMYB73was cloned from “Royal Gala” apples and functionally characterized as a positive regulator of the defense response to Botryosphaeria dothidea. qRT-PCR and GUS staining demonstrated that MdMYB73was strongly induced in apple fruits and transgenic calli after inoculation with B. dothidea. MdMYB73overexpression improved resistance to B. dothideain apple calli and fruits, while MdMYB73suppression weakened. Increased resistance to B. dothideawas also observed in MdMYB73-expressing Arabidopsis thaliana. Interestingly, salicylic acid (SA) contents and the expression levels of genes related with SA synthesis and signaling were greater in MdMYB73-overexpressing plant materials compared to wild-type controls after inoculation, suggesting that MdMYB73 might enhance resistance to B. dothideaviathe SA pathway. Finally, we discovered that MdMYB73 interacts with MdWRKY31, a positive regulator of B. dothidea. Together, MdWRKY31 and MdMYB73 enhanced B. dothidearesistance in apples. Our results clarify the mechanisms by which MdMYB73 improves resistance to B. dothideaand suggest that resistance may be affected by regulating the SA pathway.

Published
2021
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48. Effect of GBA Mutations on Phenotype of Parkinson’s Disease: A Study on Chinese Population and a Meta-Analysis.

Author

Zhang, Yuan, Sun, Qi-ying, Zhao, Yu-wen, Shu, Li, Guo, Ji-feng, Xu, Qian, Yan, Xin-xiang, and Tang, Bei-sha

Subjects
PARKINSON'S disease & genetics, CHI-squared test, CONFIDENCE intervals, DATABASES, INFORMATION storage & retrieval systems, MEDICAL databases, MEDICAL information storage & retrieval systems, MEDLINE, META-analysis, GENETIC mutation, ONLINE information services, RESEARCH funding, PHENOTYPES, SYSTEMATIC reviews, ODDS ratio
Abstract

GBA has been identified as a genetic risk factor for PD. Whether the clinical manifestations of PD patients with or without GBA mutations are different has still not reached a consensus. We firstly detected the GBA mutation L444P in 1147 Chinese PD patients and simultaneously evaluated their corresponding clinical data. Then we compared the phenotypes between 646 PD patients with GBA mutations and 10344 PD patients without GBA mutations worldwide through meta-analysis. Through the method of meta-analysis, there was significant difference in age at onset (MD = −3.10 [95% CI: −4.88, −1.32]), bradykinesia as an initial symptom (OR = 1.49 [95% CI: 1.15, 1.94]), having family history (OR = 1.50 [95% CI: 1.18, 1.91]), and dementia (OR = 3.21 [95% CI: 1.97, 5.24]) during the comparison between PD patients with and without GBA mutations. While, in the aspect of tremor as an initial symptom (OR = 0.81 [95% CI: 0.64, 1.03]), the severity of motor symptoms such as H-Y (MD = 0.06 [95% CI: −0.06, 0.17]) and UPDRS-III (MD = 1.61 [95% CI: −0.65, 3.87]) and having dyskinesia (OR = 1.60 [95% CI: 0.90, 2.84]) during the comparison between the two groups revealed no statistical differences. Our results suggested that the phenotypes of PD patients with GBA mutations are different from GBA noncarriers. [ABSTRACT FROM AUTHOR]

Published
2015
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