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1,095 results on '"Shi, Yongyong"'

3. A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression

Author

Li, You, Li, Zhiqiang, Chen, Ruiling, Lian, Min, Wang, Hanxiao, Wei, Yiran, You, Zhengrui, Zhang, Jun, Li, Bo, Li, Yikang, Huang, Bingyuan, Chen, Yong, Liu, Qiaoyan, Lyu, Zhuwan, Liang, Xueying, Miao, Qi, Xiao, Xiao, Wang, Qixia, Fang, Jingyuan, Shi, YongYong, Liu, Xiangdong, Seldin, Michael F, Gershwin, M Eric, Tang, Ruqi, and Ma, Xiong

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Autoimmune Disease, Rare Diseases, Prevention, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study, Liver Cirrhosis, Biliary, Genotype, Transcription Factors, DNA-Binding Proteins
Abstract

Genome-wide association studies have identified 19p13.3 locus associated with primary biliary cholangitis (PBC). Here we aim to identify causative variant(s) and initiate efforts to define the mechanism by which the 19p13.3 locus variant(s) contributes to the pathogenesis of PBC. A genome-wide meta-analysis of 1931 PBC subjects and 7852 controls in two Han Chinese cohorts confirms the strong association between 19p13.3 locus and PBC. By integrating functional annotations, luciferase reporter assay and allele-specific chromatin immunoprecipitation, we prioritize rs2238574, an AT-Rich Interaction Domain 3A (ARID3A) intronic variant, as a potential causal variant at 19p13.3 locus. The risk allele of rs2238574 shows higher binding affinity of transcription factors, leading to an increased enhancer activity in myeloid cells. Genome-editing demonstrates the regulatory effect of rs2238574 on ARID3A expression through allele-specific enhancer activity. Furthermore, knock-down of ARID3A inhibits myeloid differentiation and activation pathway, and overexpression of the gene has the opposite effect. Finally, we find ARID3A expression and rs2238574 genotypes linked to disease severity in PBC. Our work provides several lines of evidence that a non-coding variant regulates ARID3A expression, presenting a mechanistic basis for association of 19p13.3 locus with the susceptibility to PBC.

Published
2023

12. Author Correction: Identification of recurrent USP48 and BRAF mutations in Cushing’s disease

Author

Chen, Jianhua, Jian, Xuemin, Deng, Siyu, Ma, Zengyi, Shou, Xuefei, Shen, Yue, Zhang, Qilin, Song, Zhijian, Li, Zhiqiang, Peng, Hong, Peng, Cheng, Chen, Min, Luo, Cheng, Zhao, Dan, Ye, Zhao, Shen, Ming, Zhang, Yichao, Zhou, Juan, Fahira, Aamir, Wang, Yongfei, Li, Shiqi, Zhang, Zhaoyun, Ye, Hongying, Li, Yiming, Shen, Jiawei, Chen, Hong, Tang, Feng, Yao, Zhenwei, Shi, Zhifeng, Chen, Chunjui, Xie, Lu, Wang, Ye, Fu, Chaowei, Mao, Ying, Zhou, Liangfu, Gao, Daming, Yan, Hai, Zhao, Yao, Huang, Chuanxin, and Shi, Yongyong

Published
2023
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13. Structurally divergent and recurrently mutated regions of primate genomes

Author

Mao, Yafei, Harvey, William T., Porubsky, David, Munson, Katherine M., Hoekzema, Kendra, Lewis, Alexandra P., Audano, Peter A., Rozanski, Allison, Yang, Xiangyu, Zhang, Shilong, Yoo, DongAhn, Gordon, David S., Fair, Tyler, Wei, Xiaoxi, Logsdon, Glennis A., Haukness, Marina, Dishuck, Philip C., Jeong, Hyeonsoo, del Rosario, Ricardo, Bauer, Vanessa L., Fattor, Will T., Wilkerson, Gregory K., Mao, Yuxiang, Shi, Yongyong, Sun, Qiang, Lu, Qing, Paten, Benedict, Bakken, Trygve E., Pollen, Alex A., Feng, Guoping, Sawyer, Sara L., Warren, Wesley C., Carbone, Lucia, and Eichler, Evan E.

Published
2024
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14. A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene

Author

Ding, Yonghe, Lang, Di, Yan, Jianhua, Bu, Haisong, Li, Hongsong, Jiao, Kunli, Yang, Jingchun, Ni, Haibo, Morotti, Stefano, Le, Tai, Clark, Karl J, Port, Jenna, Ekker, Stephen C, Cao, Hung, Zhang, Yuji, Wang, Jun, Grandi, Eleonora, Li, Zhiqiang, Shi, Yongyong, Li, Yigang, Glukhov, Alexey V, and Xu, Xiaolei

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Cardiovascular, Heart Disease, 2.1 Biological and endogenous factors, Mice, Animals, Humans, Sick Sinus Syndrome, Zebrafish, Sinoatrial Node, Phenotype, Electrocardiography, Arrhythmias, Cardiac, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Nerve Tissue Proteins, Molecular Chaperones, HSP40 Heat-Shock Proteins, sick sinus syndrome, sinus arrest, Dnajb6, electrocardiogram, genetic diseases, zebrafish, genetics, genomics, Biochemistry and Cell Biology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Previously we showed the generation of a protein trap library made with the gene-break transposon (GBT) in zebrafish (Danio rerio) that could be used to facilitate novel functional genome annotation towards understanding molecular underpinnings of human diseases (Ichino et al, 2020). Here, we report a significant application of this library for discovering essential genes for heart rhythm disorders such as sick sinus syndrome (SSS). SSS is a group of heart rhythm disorders caused by malfunction of the sinus node, the heart's primary pacemaker. Partially owing to its aging-associated phenotypic manifestation and low expressivity, molecular mechanisms of SSS remain difficult to decipher. From 609 GBT lines screened, we generated a collection of 35 zebrafish insertional cardiac (ZIC) mutants in which each mutant traps a gene with cardiac expression. We further employed electrocardiographic measurements to screen these 35 ZIC lines and identified three GBT mutants with SSS-like phenotypes. More detailed functional studies on one of the arrhythmogenic mutants, GBT411, in both zebrafish and mouse models unveiled Dnajb6 as a novel SSS causative gene with a unique expression pattern within the subpopulation of sinus node pacemaker cells that partially overlaps with the expression of hyperpolarization activated cyclic nucleotide gated channel 4 (HCN4), supporting heterogeneity of the cardiac pacemaker cells.

Published
2022

15. The Contribution of Mosaic Chromosomal Alterations to Schizophrenia

Author

Chang, Kaihui, Jian, Xuemin, Wu, Chuanhong, Gao, Chengwen, Li, Yafang, Chen, Jianhua, Xue, Baiqiang, Ding, Yonghe, Peng, Lixia, Wang, Baokun, He, Lin, Xu, Yifeng, Li, Changgui, Li, Xingwang, Wang, Zhuo, Zhao, Xiangzhong, Pan, Dun, Yang, Qiangzhen, Zhou, Juan, Zhu, Zijia, Liu, Ze, Xia, Disong, Feng, Guoyin, Zhang, Qian, Wen, Yanqin, Shi, Yongyong, and Li, Zhiqiang

Published
2024
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24. Comparative genetic architectures of schizophrenia in East Asian and European populations

Author

Lam, Max, Chen, Chia-Yen, Li, Zhiqiang, Martin, Alicia R, Bryois, Julien, Ma, Xixian, Gaspar, Helena, Ikeda, Masashi, Benyamin, Beben, Brown, Brielin C, Liu, Ruize, Zhou, Wei, Guan, Lili, Kamatani, Yoichiro, Kim, Sung-Wan, Kubo, Michiaki, Kusumawardhani, Agung AAA, Liu, Chih-Min, Ma, Hong, Periyasamy, Sathish, Takahashi, Atsushi, Xu, Zhida, Yu, Hao, Zhu, Feng, Chen, Wei J, Faraone, Stephen, Glatt, Stephen J, He, Lin, Hyman, Steven E, Hwu, Hai-Gwo, McCarroll, Steven A, Neale, Benjamin M, Sklar, Pamela, Wildenauer, Dieter B, Yu, Xin, Zhang, Dai, Mowry, Bryan J, Lee, Jimmy, Holmans, Peter, Xu, Shuhua, Sullivan, Patrick F, Ripke, Stephan, O’Donovan, Michael C, Daly, Mark J, Qin, Shengying, Sham, Pak, Iwata, Nakao, Hong, Kyung S, Schwab, Sibylle G, Yue, Weihua, Tsuang, Ming, Liu, Jianjun, Ma, Xiancang, Kahn, René S, Shi, Yongyong, and Huang, Hailiang

Subjects
Genetics, Human Genome, Serious Mental Illness, Schizophrenia, Brain Disorders, Mental Health, Prevention, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Asian People, Case-Control Studies, Asia, Eastern, Genetics, Population, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, White People, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Indonesia Schizophrenia Consortium, Genetic REsearch on schizophreniA neTwork-China and the Netherlands, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk globally. Large-scale schizophrenia genetic studies have reported primarily on European ancestry samples, potentially missing important biological insights. Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide-significant associations in 19 genetic loci. Common genetic variants that confer risk for schizophrenia have highly similar effects between East Asian and European ancestries (genetic correlation = 0.98 ± 0.03), indicating that the genetic basis of schizophrenia and its biology are broadly shared across populations. A fixed-effect meta-analysis including individuals from East Asian and European ancestries identified 208 significant associations in 176 genetic loci (53 novel). Trans-ancestry fine-mapping reduced the sets of candidate causal variants in 44 loci. Polygenic risk scores had reduced performance when transferred across ancestries, highlighting the importance of including sufficient samples of major ancestral groups to ensure their generalizability across populations.

Published
2019

25. Novel Genetic Risk and Metabolic Signatures of Insulin Signaling and Androgenesis in the Anovulation of Polycystic Ovary Syndrome

Author

Wu, Xiaoke, Wang, Chi Chiu, Cao, Yijuan, Li, Jian, Li, Zhiqiang, Ma, Hongli, Gao, Jingshu, Chang, Hui, Zhang, Duojia, Cong, Jing, Wang, Yu, Wu, Qi, Han, Xiaoxiao, Chung, Pui Wah Jacqueline, Li, Yiran, Zheng, Xu, Chen, Lingxi, Zeng, Lin, Borchert, Astrid, Kuhn, Hartmut, Chen, Zi-Jiang, Ng, Ernest Hung Yu, Stener-Victorin, Elisabet, Zhang, Heping, Legro, Richard S., Mol, Ben Willem J., and Shi, Yongyong

Published
2023
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27. Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women

Author

Lawrenson, Kate, Song, Fengju, Hazelett, Dennis J, Kar, Siddhartha P, Tyrer, Jonathan, Phelan, Catherine M, Corona, Rosario I, Rodríguez-Malavé, Norma I, Seo, Ji-Hei, Adler, Emily, Coetzee, Simon G, Segato, Felipe, Fonseca, Marcos AS, Amos, Christopher I, Carney, Michael E, Chenevix-Trench, Georgia, Choi, Jiyeob, Doherty, Jennifer A, Jia, Weihua, Jin, Gang J, Kim, Byoung-Gie, Le, Nhu D, Lee, Juyeon, Li, Lian, Lim, Boon K, Adenan, Noor A, Mizuno, Mika, Park, Boyoung, Pearce, Celeste L, Shan, Kang, Shi, Yongyong, Shu, Xiao-Ou, Sieh, Weiva, Group, The Australian Ovarian Cancer Study, Thompson, Pamela J, Wilkens, Lynne R, Wei, Qingyi, Woo, Yin L, Yan, Li, Karlan, Beth Y, Freedman, Matthew L, Noushmehr, Houtan, Goode, Ellen L, Berchuck, Andrew, Sellers, Thomas A, Teo, Soo-Hwang, Zheng, Wei, Matsuo, Keitaro, Park, Sue, Chen, Kexin, Pharoah, Paul DP, Gayther, Simon A, and Goodman, Marc T

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Biotechnology, Human Genome, Ovarian Cancer, Genetics, Prevention, Clinical Research, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Asian People, Base Sequence, Carcinoma, Ovarian Epithelial, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-wide association study, Asian ancestry, Epithelial ovarian cancer, Enhancer, eQTL, Gene regulation, Australian Ovarian Cancer Study Group, Paediatrics and Reproductive Medicine, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis, Reproductive medicine
Abstract

ObjectiveGenome-wide association studies (GWASs) for epithelial ovarian cancer (EOC) have focused largely on populations of European ancestry. We aimed to identify common germline variants associated with EOC risk in Asian women.MethodsGenotyping was performed as part of the OncoArray project. Samples with >60% Asian ancestry were included in the analysis. Genotyping was performed on 533,631 SNPs in 3238 Asian subjects diagnosed with invasive or borderline EOC and 4083 unaffected controls. After imputation, genotypes were available for 11,595,112 SNPs to identify associations.ResultsAt chromosome 6p25.2, SNP rs7748275 was associated with risk of serous EOC (odds ratio [OR] = 1.34, P = 8.7 × 10-9) and high-grade serous EOC (HGSOC) (OR = 1.34, P = 4.3 × 10-9). SNP rs6902488 at 6p25.2 (r2 = 0.97 with rs7748275) lies in an active enhancer and is predicted to impact binding of STAT3, P300 and ELF1. We identified additional risk loci with low Bayesian false discovery probability (BFDP) scores, indicating they are likely to be true risk associations (BFDP

Published
2019

29. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author

Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Watanabe, Kyoko, Frei, Oleksandr, Ge, Tian, Harwood, Janet C., Koopmans, Frank, Magnusson, Sigurdur, Richards, Alexander L., Sidorenko, Julia, Wu, Yang, Zeng, Jian, Grove, Jakob, Kim, Minsoo, Li, Zhiqiang, Voloudakis, Georgios, Zhang, Wen, Adams, Mark, Agartz, Ingrid, Atkinson, Elizabeth G., Agerbo, Esben, Al Eissa, Mariam, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Alptekin, Köksal, Als, Thomas D., Amin, Farooq, Arolt, Volker, Arrojo, Manuel, Athanasiu, Lavinia, Azevedo, Maria Helena, Bacanu, Silviu A., Bass, Nicholas J., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Benyamin, Beben, Bergen, Sarah E., Blasi, Giuseppe, Bobes, Julio, Bonassi, Stefano, Braun, Alice, Bressan, Rodrigo Affonseca, Bromet, Evelyn J., Bruggeman, Richard, Buckley, Peter F., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cahn, Wiepke, Cairns, Murray J., Calkins, Monica E., Carr, Vaughan J., Castle, David, Catts, Stanley V., Chambert, Kimberley D., Chan, Raymond C. K., Chaumette, Boris, Cheng, Wei, Cheung, Eric F. C., Chong, Siow Ann, Cohen, David, Consoli, Angèle, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Davidson, Michael, Davis, Kenneth L., de Haan, Lieuwe, Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Faraone, Stephen V., Fiorentino, Alessia, Forstner, Andreas, Frank, Josef, Freimer, Nelson B., Fromer, Menachem, Frustaci, Alessandra, Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Giannitelli, Marianna, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., González Peñas, Javier, González-Pinto, Ana, Gopal, Srihari, Gratten, Jacob, Green, Michael F., Greenwood, Tiffany A., Guillin, Olivier, Gülöksüz, Sinan, Gur, Raquel E., Gur, Ruben C., Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Haroutunian, Vahram, Hartmann, Annette M., Harvey, Carol, Hayward, Caroline, Henskens, Frans A., Herms, Stefan, Hoffmann, Per, Howrigan, Daniel P., Ikeda, Masashi, Iyegbe, Conrad, Joa, Inge, Julià, Antonio, Kähler, Anna K., Kam-Thong, Tony, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Kebir, Oussama, Keller, Matthew C., Kelly, Brian J., Khrunin, Andrey, Kim, Sung-Wan, Klovins, Janis, Kondratiev, Nikolay, Konte, Bettina, Kraft, Julia, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Lee, Phil H., Legge, Sophie E., Lehrer, Douglas S., Lencer, Rebecca, Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Light, Gregory A., Limborska, Svetlana, Liu, Chih-Min, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Macek, Jr, Milan, Mackinnon, Andrew, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Malaspina, Dolores, Mallet, Jacques, Marder, Stephen R., Marsal, Sara, Martin, Alicia R., Martorell, Lourdes, Mattheisen, Manuel, McCarley, Robert W., McDonald, Colm, McGrath, John J., Medeiros, Helena, Meier, Sandra, Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mitjans, Marina, Molden, Espen, Molina, Esther, Molto, María Dolores, Mondelli, Valeria, Moreno, Carmen, Morley, Christopher P., Muntané, Gerard, Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Nikitina-Zake, Liene, Noto, Cristiano, Nuechterlein, Keith H., O’Brien, Niamh Louise, O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Ota, Vanessa Kiyomi, Pantelis, Christos, Papadimitriou, George N., Parellada, Mara, Paunio, Tiina, Pellegrino, Renata, Periyasamy, Sathish, Perkins, Diana O., Pfuhlmann, Bruno, Pietiläinen, Olli, Pimm, Jonathan, Porteous, David, Powell, John, Quattrone, Diego, Quested, Digby, Radant, Allen D., Rampino, Antonio, Rapaport, Mark H., Rautanen, Anna, Reichenberg, Abraham, Roe, Cheryl, Roffman, Joshua L., Roth, Julian, Rothermundt, Matthias, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Sanjuan, Julio, Santoro, Marcos Leite, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Seidman, Larry J., Sharp, Sally Isabel, Shi, Jianxin, Siever, Larry J., Sigurdsson, Engilbert, Sim, Kang, Skarabis, Nora, Slominsky, Petr, So, Hon-Cheong, Sobell, Janet L., Söderman, Erik, Stain, Helen J., Steen, Nils Eiel, Steixner-Kumar, Agnes A., Stögmann, Elisabeth, Stone, William S., Straub, Richard E., Streit, Fabian, Strengman, Eric, Stroup, T. Scott, Subramaniam, Mythily, Sugar, Catherine A., Suvisaari, Jaana, Svrakic, Dragan M., Swerdlow, Neal R., Szatkiewicz, Jin P., Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Toncheva, Draga, Tooney, Paul A., Torretta, Silvia, Tosato, Sarah, Tura, Gian Battista, Turetsky, Bruce I., Üçok, Alp, Vaaler, Arne, van Amelsvoort, Therese, van Winkel, Ruud, Veijola, Juha, Waddington, John, Walter, Henrik, Waterreus, Anna, Webb, Bradley T., Weiser, Mark, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Zhou, Wei, Zhu, Feng, Zimprich, Fritz, Atbaşoğlu, Eşref Cem, Ayub, Muhammad, Benner, Christian, Bertolino, Alessandro, Black, Donald W., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Byerley, William F., Chen, Wei J., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Freedman, Robert, Galletly, Cherrie, Gandal, Michael J., Gennarelli, Massimo, Hougaard, David M., Hwu, Hai-Gwo, Jablensky, Assen V., McCarroll, Steven A., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Müller-Myhsok, Bertram, Neil, Amanda L., Nordentoft, Merete, Pato, Michele T., Petryshen, Tracey L., Pirinen, Matti, Pulver, Ann E., Schulze, Thomas G., Silverman, Jeremy M., Smoller, Jordan W., Stahl, Eli A., Tsuang, Debby W., Vilella, Elisabet, Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Arango, Celso, Baune, Bernhard T., Belangero, Sintia Iole, Børglum, Anders D., Braff, David, Bramon, Elvira, Buxbaum, Joseph D., Campion, Dominique, Cervilla, Jorge A., Cichon, Sven, Collier, David A., Corvin, Aiden, Curtis, David, Forti, Marta Di, Domenici, Enrico, Ehrenreich, Hannelore, Escott-Price, Valentina, Esko, Tõnu, Fanous, Ayman H., Gareeva, Anna, Gawlik, Micha, Gejman, Pablo V., Gill, Michael, Glatt, Stephen J., Golimbet, Vera, Hong, Kyung Sue, Hultman, Christina M., Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Kennedy, James L., Khusnutdinova, Elza, Kirov, George, Knowles, James A., Krebs, Marie-Odile, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., Malhotra, Dheeraj, McIntosh, Andrew, McQuillin, Andrew, Menezes, Paulo R., Morgan, Vera A., Morris, Derek W., Mowry, Bryan J., Murray, Robin M., Nimgaonkar, Vishwajit, Nöthen, Markus M., Ophoff, Roel A., Paciga, Sara A., Palotie, Aarno, Pato, Carlos N., Qin, Shengying, Rietschel, Marcella, Riley, Brien P., Rivera, Margarita, Rujescu, Dan, Saka, Meram C., Sanders, Alan R., Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Shi, Yongyong, St Clair, David, Stefánsson, Hreinn, Stefansson, Kari, Tsuang, Ming T., van Os, Jim, Vawter, Marquis P., Weinberger, Daniel R., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Holmans, Peter A., Pocklington, Andrew J., Roussos, Panos, Vassos, Evangelos, Verhage, Matthijs, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Kendler, Kenneth S., Owen, Michael J., Wray, Naomi R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Sullivan, Patrick F., Ripke, Stephan, Walters, James T. R., and O’Donovan, Michael C.

Published
2022
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31. A meta-analysis of genome-wide association studies using Japanese and Taiwanese has revealed novel loci associated with gout susceptibility

Author

Chang, Shun-Jen, Toyoda, Yu, Kawamura, Yusuke, Nakamura, Takahiro, Nakatochi, Masahiro, Nakayama, Akiyoshi, Liao, Wei-Ting, Shimizu, Seiko, Takada, Tappei, Takeuchi, Kenji, Wakai, Kenji, Shi, Yongyong, Shinomiya, Nariyoshi, Chen, Chung-Jen, Li, Changgui, Okada, Yukinori, Ichida, Kimiyoshi, and Matsuo, Hirotaka

Published
2022
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36. Using AuNPs-DNA Walker with Fluorophores Detects the Hepatitis Virus Rapidly.

Author

Sun, Baining, Zheng, Chenxiang, Pan, Dun, Shen, Leer, Zhang, Wan, Chen, Xiaohua, Wen, Yanqin, and Shi, Yongyong

Subjects
HEPATITIS viruses, HEPATITIS A, HEPATITIS A virus, VIRAL hepatitis, COMPLEMENTARY DNA
Abstract

Viral hepatitis is a systemic infectious diseases caused by various hepatitis viruses, primarily leading to liver damage. It is widely prevalent worldwide, with hepatitis viruses categorized into five types: hepatitis A, B, C, D, and E, based on their etiology. Currently, the detection of hepatitis viruses relies on methods such as enzyme-linked immunosorbent assay (ELISA), immunoelectron microscopy to observe and identify viral particles, and in situ hybridization to detect viral DNA in tissues. However, these methods have limitations, including low sensitivity, high error rates in results, and potential false negative reactions due to occult serum infection conditions. To address these challenges, we have designed an AuNPs-DNA walker method that uses gold nanoparticles (AuNPs) and complementary DNA strands for detecting viral DNA fragments through a colorimetric assay and fluorescence detection. The DNA walker, attached to gold nanoparticles, comprises a long walking strand with a probe sequence bound and stem-loop structural strands featuring a modified fluorescent molecule at the 3′ end, which contains the DNAzyme structural domain. Upon the addition of virus fragments, the target sequence binds to the probe chains. Subsequently, the long walking strand is released and continuously hybridizes with the stem-loop structural strand. The DNAzyme undergoes hydrolytical cleavage by Mg2+, breaking the stem-loop structural strand into linear single strands. As a result of these structural changes, the negative charge density in the solution decreases, weakening spatial repulsion and rapidly reducing the stability of the DNA walker. This leads to aggregation upon the addition of a high-salt solution, accompanied by a color change. Virus typing can be performed through fluorescence detection. The innovative method can detect DNA/RNA fragments with high specificity for the target sequence, reaching concentrations as low as 1 nM. Overall, our approach offers a more convenient and reliable method for the detection of hepatitis viruses. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study in multiple populations

Author

Au, Wing-Yan, Chiu, Brian, Fan, Lei, Li, Zheng, LAM, Tai Hing, Liang, Raymond, Yeh, Su-Peng, Xu, Jun, Ip, Dennis Kai Ming, Li, Gandi, Xu, Gang, Wang, Xiaodong, Bai, Ou, Cai, Qing-Qing, Xia, Yi, Chen, Jie-Rong, Luo, Chun-Ling, Xiong, Xiang-Yu, Zeng, Yanni, Wei, Pan-Pan, Liu, Chu-Jun, Liu, Yu-Xiang, Cao, Yu-Lu, He, Shuai, Liu, Yang, Ha, Jeslin Chian Hung, Khoo, Lay Poh, Kee, Rebecca Xiangpin, Tan, Jing, Liu, Yanhui, Zhang, Fen, Feng, Yanfen, Rao, Huilan, Chng, Wee Joo, Chan, Jason Yong Sheng, Somasundaram, Nagavalli D/O, Tao, Miriam, Ras, Mohamad Farid Bin Harunal, Yeoh, Kheng-Wei, Goh, Yeow Tee, Ong, Shin Yeu, Grigoropoulos, Nicholas Francis, Wong, Esther Kam Yin, Pang, Jane Wan Lu, Lim, Jing Quan, Chia, Burton Kuan Hui, Kim, Seok Jin, Yoon, Sang Eun, Choi, Seungkyu, Kuo, Ching-Yuan, Chen, Tsai-Yun, Su, Yu-Chieh, Huang, Wen-Tsung, Lee, Ming-Yang, Yao, Wenxiu, Ngan, Kai-Cheong, Liu, Herman, Lee, Harold, Yip, Sze-Fai, Liu, Jie, Li, Jianyong, Rabkin, Charles S., Berndt, Sonja, Bassig, Bryan, Hu, Wei, Zhao, Mingfeng, Li, Yuming, Zhai, Qiongli, Shao, Zonghong, Qiu, Lugui, Wang, Jianxiang, Xu, Fu-Ping, Chen, Ling, Hou, Yu, Xu, Shuangnian, Huang, Zhen, Xie, Mingling, Li, Ming, Zhong, Shilong, Zhang, Yan, Gu, Dongqing, Wang, Xin, Foo, Jia Nee, Li, Zhiqiang, Dai, Juncheng, Sun, Liangdan, Wang, Zhenzhen, Liu, Hong, Zhou, Hui, Sun, Yonghu, Koh, Woon-Puay, Heng, Chew-Kiat, Hong, Chew Soo, Ahn, Jeeyun, Park, Kyu Hyung, Tin, Aung, Gu, Jieruo, Xia, Xiaojun, Li, Bo, Yu, Xueqing, Lin, Guo-Wang, Xu, Caigang, Chen, Kexin, Huang, Hui-Qiang, Chen, Jieping, Song, Bao, Chan, John K C, Li, Wenyu, Liu, Weiping, Shih, Lee-Yung, Chuang, Wen-Yu, Kim, Won Seog, Tan, Wen, Peng, Rou-Jun, Laurensia, Yurike, Cheah, Daryl Ming Zhe, Huang, DaChuan, Cheng, Chee Leong, Su, Yi-Jiun, Tan, Soo-Yong, Ng, Siok-Bian, Tang, Tiffany Pooi Ling, Han, Kyudong, Wang, Vivien Ya-Fan, Jia, Wei-Hua, Pei, Zhong, Li, Ya-Jun, Gao, Song, Shi, Yongyong, Hu, Zhibin, Zhang, Furen, Zhang, Ben, Zeng, Yi-Xin, Shen, Hongbing, He, Lin, Ong, Choon Kiat, Lim, Soon Thye, Chanock, Stephen, Kwong, Yok-Lam, Lin, Dongxin, Rothman, Nathaniel, Khor, Chiea Chuen, Lan, Qing, and Bei, Jin-Xin

Published
2020
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44. A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density.

Author

Tang, Ruqi, Wei, Yiran, Li, Zhiqiang, Chen, Haoyan, Miao, Qi, Bian, Zhaolian, Zhang, Haiyan, Wang, Qixia, Wang, Zhaoyue, Lian, Min, Yang, Fan, Jiang, Xiang, Yang, Yue, Li, Enling, Seldin, Michael F, Gershwin, M Eric, Liao, Wilson, Shi, Yongyong, and Ma, Xiong

Subjects
T-Lymphocytes, Cell Line, Tumor, Humans, Liver Cirrhosis, Biliary, Cohort Studies, Bone Density, Genotype, Polymorphism, Single Nucleotide, Alleles, Quantitative Trait Loci, Adult, Aged, Middle Aged, Asian Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Claudins, Cell Line, Tumor, Liver Cirrhosis, Biliary, Polymorphism, Single Nucleotide
Abstract

Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone mineral density (BMD). These observations led us to investigate the genetic variants shared between PBC and BMD. We evaluated 72 genome-wide significant BMD SNPs for association with PBC using two European GWAS data sets (n = 8392), with replication of significant findings in a Chinese cohort (685 cases, 1152 controls). Our analysis identified a novel variant in the intron of the CLDN14 gene (rs170183, Pfdr = 0.015) after multiple testing correction. The three associated variants were followed-up in the Chinese cohort; one SNP rs170183 demonstrated consistent evidence of association in diverse ethnic populations (Pcombined = 2.43 × 10(-5)). Notably, expression quantitative trait loci (eQTL) data revealed that rs170183 was correlated with a decline in CLDN14 expression in both lymphoblastoid cell lines and T cells (Padj = 0.003 and 0.016, respectively). In conclusion, our study identified a novel PBC susceptibility variant that has been shown to be strongly associated with BMD, highlighting the potential of pleiotropy to improve gene discovery.

Published
2016

47. BW373U86 upregulates autophagy by inhibiting the PI3K/Akt pathway and regulating the mTOR pathway to protect cardiomyocytes from hypoxia-reoxygenation injury

Author

Liang, Qianyi, Huang, Xiaoling, Zeng, Chaokun, Li, Dewei, Shi, Yongyong, Zhao, Gaofeng, and Zhong, Min

Subjects
Ischemia -- Research, Opioids -- Dosage and administration, Heart cells -- Research, Analgesics -- Dosage and administration, Pharmaceutical research, Biological sciences
Abstract

The purpose of this study was to explore the protective effect of BW373U86 (a [delta]-opioid receptor (DOR) agonist) on ischemia-reperfusion (I/R) injury in rat cardiomyocytes and its underlying mechanism. Primary rat cardiomyocytes were cultured and pretreated with BW373U86 for intervention. The cardiomyocytes were cultured under the condition of 94% [N.sub.2] and 5% C[O.sub.2] for 24 h to perform hypoxia culture and conventionally cultured for 12 h to perform reoxygenation culture. The cell viability of cardiomyocytes was detected by an MTT assay (Sigma-Aldrich). The autophagy lysosome levels in cardiomyocytes were evaluated by acidic vesicular organelles with dansylcadaverine (MDC) staining (autophagy test kit, Kaiji Biology, kgatg001). The protein expression levels of LC3, p62, and factors in the PI3K/Akt/mTOR signaling pathway were detected by Western blot. Pretreatment with BW373U86 could improve the cell viability of cardiomyocytes with hypoxia-reoxygenation (H/R) injury (p < 0.05). Interestingly, after coculture of BW373U86 and PI3K inhibitor (3-methyladenine), the protein expression levels of p-Akt in cardiomyocytes were markedly increased in comparison with those in the BW373U86 group (p < 0.05). However, there were no significant differences in the protein expression levels of mTOR between the coculture group and the BW373U86 group (p > 0.05). BW373U86 upregulated autophagy to protect cardiomyocytes from H/R injury, which may be related to the PI3K/Akt/m TOR pathway. Key words: hypoxia-reoxygenation injury, cardiomyocytes, BW373U86, PI3K/Akt/m TOR pathway. Cette etude avait pour but d'explorer l'effet protecteur du BW373U86 (un agoniste des recepteurs aux opiaces [delta] (ROD)) sur les lesions d'ischemie-reperfusion (I/R) dans des cardiomyocytes de rat, ainsi que son mode d'action sousjacent. Nous avons cultive des cardiomyocytes primitifs de rat et exposes au prealable au BW373U86 comme intervention. Nous avons cultive les cardiomyocytes sous des condition de [N.sub.2] a 94 % et de C[O.sub.2] a 5 % pendant 24 h afin d'obtenir une culture en hypoxie et de maniere conventionnelle pendant 12 h afin d'obtenir une culture en reoxygenation. Nous avons etabli la viabilite des cellules a l'aide de l'epreuve MTT (Sigma-Aldrich). Nous avons evalue les taux d'autophagie lysosome dans les cardiomyocytes avec des organites vesiculaires acides a l'aide de la coloration par la dansylcadaverine (MDC) (trousse d'epreuve autophagy, Kaiji Biology, kgatg001). Nous avons detecte les taux d'expression en proteines du LC3, du p62 et de facteurs de la voie de signalisation PI3K/Akt/mTOR a l'aide de l'immunobuvardage de western. L'exposition prealable au BW373U86 permettait d'ameliorer la viabilite des cardiomyocytes touches par des lesions d'hypoxie-reoxygenation (H/R) (p < 0,05). Il est interessant de noter qu'apres la culture conjointe avec le BW373U86 et un inhibiteur de la PI3K (3-methyladenine), les taux d'expression en proteines de la p-Akt dans les cardiomyocytes augmentaient de facon plus marquee que dans le groupe BW373U86 (p < 0,05). Cependant, nous n'avons pas observe de difference appreciable des taux d'expression en proteines de la mTOR entre le groupe en culture conjointe et le groupe BW373U86 (p > 0,05). En conclusion, le BW373U86 entrainait une regulation a la hausse de l'autophagie permettant de proteger les cardiomyocytes contre les lesions d'H/R, phenomene qui pourrait etre lie a la voie de signalisation PI3K/Akt/mTOR. [Traduit par la Redaction] Mots-cles: lesions d'hypoxie-reoxygenation, cardiomyocytes, BW373U86, voie de signalisation PI3K/Akt/mTOR., Introduction Ischemic heart disease has high morbidity and mortality, with acute myocardial infarction having the highest disability and mortality rates (Moran et al. 2014; Hausenloy and Yellon 2013). Currently, although [...]

Published
2020
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48. Correction to: Genetic risk of clozapine-induced leukopenia and neutropenia: a genome-wide association study

Author

Chen, Jianhua, Yang, Ping, Zhang, Qian, Chen, Ruirui, Wang, Peng, Liu, Benxiu, Sun, Wensheng, Jian, Xuemin, Xiang, Siying, Zhou, Juan, Li, Ningning, Wang, Ke, Gao, Chengwen, Wen, Yanqin, Wu, Chuanhong, Zhang, Jinmai, Zhao, Yalin, Yang, Qiangzhen, Li, Meihang, Stewart, Robert, Sun, Yuanchao, Pan, Dun, Niu, Yujuan, Wang, Zhuo, Xu, Yifeng, Li, Xingwang, He, Lin, Li, Zhiqiang, and Shi, Yongyong

Published
2021
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49. Genetic risk of clozapine-induced leukopenia and neutropenia: a genome-wide association study

Author

Chen, Jianhua, Yang, Ping, Zhang, Qian, Chen, Ruirui, Wang, Peng, Liu, Benxiu, Sun, Wensheng, Jian, Xuemin, Xiang, Siying, Zhou, Juan, Li, Ningning, Wang, Ke, Gao, Chengwen, Wen, Yanqin, Wu, Chuanhong, Zhang, Jinmai, Zhao, Yalin, Yang, Qiangzhen, Li, Meihang, Stewart, Robert, Sun, Yuanchao, Pan, Dun, Niu, Yujuan, Wang, Zhuo, Xu, Yifeng, Li, Xingwang, He, Lin, Li, Zhiqiang, and Shi, Yongyong

Published
2021
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