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Ppp1r3b is a metabolic switch that shifts hepatic energy storage from lipid to glycogen Ppp1r3b是一种代谢开关，可将肝脏能量储存从脂质转向糖原 Creasy, Kate Townsend; Mehta, Minal B.; Schneider, Carolin V.; Park, Joseph; Zhang, David; Shewale, Swapnil V.; Millar, John S.; Vujkovic, Marijana; Hand, Nicholas J.; Titchenell, Paul M.; Baur, Joseph A.; Rader, Daniel J. 分享 收藏
CJRB-201, a promising candidate for microbiome-based therapy with potent anti-inflammatory effects in Inflammatory Bowel Disease Shin, C.; Park, J.; Lee, S.; Hyun, D. W.; Kim, D. H.; Jung, Y.; Kim, J. M.; Kim, J. H.; Baek, M.; Park, Y. J.; Lee, H.; Jang, H.; Hong, D. H.; Lee, J.; Cho, K. H.; Cha, I; Yoo, J. A.; Lee, K.; Park, Y. R.; Kwon, J. E.; Hong, K. H.; Huh, J. R.; Chun, J.; CJ Bioscience 分享 收藏
Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach 使用基因组优先方法对具有TM6SF2蛋白质改变变体的人类进行深度代谢表型分析 Huang, Helen Ye Rim; Vitali, Cecilia; Zhang, David; Hand, Nicholas J.; Phillips, Michael C.; Creasy, Kate Townsend; Scorletti, Eleonora; Park, Joseph; Centre, Regeneron; Schneider, Kai Markus; Rader, Daniel J.; Schneider, Carolin Victoria 分享 收藏
Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3 Park, Joseph; Levin, Michael G.; Zhang, David; Reza, Nosheen; Mead, Jonathan O.; Carruth, Eric D.; Kelly, Melissa A.; Winters, Alex; Kripke, Colleen M.; Judy, Renae L.; Damrauer, Scott M.; Owens, Anjali T.; Bastarache, Lisa; Verma, Anurag; Kinnamon, Daniel D.; Hershberger, Ray E.; Ritchie, Marylyn D.; Rader, Daniel J. 分享 收藏
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Development of Novel Peripheral Blood Count-Based Prognostic Index for Multiple Myeloma 基于外周血计数的新型多发性骨髓瘤预后指数的开发 Ferri, Grace M.; Yildirim, Cenk; Park, Joseph; Do, Nhan, V; Brophy, Mary T.; Munshi, Nikhil C.; Fillmore, Nathanael R.; Edwards, Camille, V 分享 收藏
The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD Rendel, Miriam Daphne; Vitali, Cecilia; Creasy, Kate Townsend; Zhang, David; Scorletti, Eleonora; Huang, Helen; Seeling, Katharina Sophie; Park, Joseph; Hehl, Leonida; Vell, Mara Sophie; Conlon, Donna; Hayat, Sikander; Center, Regeneron; Phillips, Michael C.; Schneider, Kai Markus; Rader, Daniel J.; Schneider, Carolin Victoria 分享 收藏
Irisin reduces amyloid-D by inducing the release of neprilysin from astrocytes following downregulation of ERK-STAT3 signaling Irisin通过诱导ERK-STAT3信号下调后星形胶质细胞释放中性溶酶来减少淀粉样蛋白D Kim, Eunhee; Kim, Hyeonwoo; Jedrychowski, Mark P.; Bakiasi, Grisilda; Park, Joseph; Kruskop, Jane; Choi, Younjung; Kwak, Sang Su; Quinti, Luisa; Kim, Doo Yeon; Wrann, Christiane D.; Spiegelman, Bruce M.; Tanzi, Rudolph E.; Choi, Se Hoon 分享 收藏
Phenotypes of undiagnosed adults with actionable OTC and GLA variants Gold, Jessica I.; Madhavan, Sarina; Park, Joseph; Zouk, Hana; Perez, Emma; Strong, Alanna; Drivas, Theodore G.; Karaa, Amel; Yudkoff, Marc; Rader, Daniel; Green, Robert C.; Gold, Nina B. 分享 收藏
Large-scale identification of undiagnosed hepatic steatosis using natural language processing Schneider, Carolin, V; Li, Tang; Zhang, David; Mezina, Anya I.; Rattan, Puru; Huang, Helen; Creasy, Kate Townsend; Scorletti, Eleonora; Zandvakili, Inuk; Vujkovic, Marijana; Hehl, Leonida; Fiksel, Jacob; Park, Joseph; Wangensteen, Kirk; Risman, Marjorie; Chang, Kyong-Mi; Serper, Marina; Carr, Rotonya M.; Schneider, Kai Markus; Chen, Jinbo; Rader, Daniel J. 分享 收藏
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice Nair, Divya; Diaz-Rosado, Abdias; Varella-Branco, Elisa; Ramos, Igor; Black, Aaron; Angireddy, Rajesh; Park, Joseph; Murali, Svathi; Yoon, Andrew; Ciesielski, Brianna; O'Brien, W. Timothy; Passos-Bueno, Maria Rita; Bhoj, Elizabeth 分享 收藏
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Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort 基因负荷分析在不同的医院队列中确定与成人起病性听力损失的风险和严重程度增加相关的基因 Hui, Daniel; Mehrabi, Shadi; Quimby, Alexandra E.; Chen, Tingfang; Chen, Sixing; Park, Joseph; Li, Binglan; Ruckenstein, Michael D.; Rader, Daniel A.; Ritchie, Marylyn J.; Brant, Jason; Epstein, Douglas; Mathieson, Iain 分享 收藏
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank Park, Joseph; MacLean, Matthew T.; Lucas, Anastasia M.; Torigian, Drew A.; Schneider, Carolin V.; Cherlin, Tess; Xiao, Brenda; Miller, Jason E.; Bradford, Yuki; Judy, Renae L.; Regeneron Genetics Ctr, Regeneron Genetics Center; Verma, Anurag; Damrauer, Scott M.; Ritchie, Marylyn D.; Witschey, Walter R.; Rader, Daniel J. 分享 收藏
Whole genome sequence analysis of blood lipid levels in >66,000 individuals > 66,000个人血脂水平的全基因组序列分析 Selvaraj, Margaret Sunitha; Li, Xihao; Li, Zilin; Pampana, Akhil; Zhang, David Y.; Park, Joseph; Aslibekyan, Stella; Bis, Joshua C.; Brody, Jennifer A.; Cade, Brian E.; Chuang, Lee-Ming; Chung, Ren-Hua; Curran, Joanne E.; de Las Fuentes, Lisa; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry, I; Graff, Mariaelisa; Guo, Xiuqing; Heard-Costa, Nancy; Hidalgo, Bertha; Hwu, Chii-Min; Irvin, Marguerite R.; Kelly, Tanika N.; Kral, Brian G.; Lange, Leslie; Li, Xiaohui; Lisa, Martin; Lubitz, Steven A.; Manichaikul, Ani W.; Michael, Preuss; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O'Connell, Jeffrey R.; Palmer, Nicholette D.; Peyser, Patricia A.; Reupena, Muagututia S.; Smith, Jennifer A.; Sun, Xiao; Taylor, Kent D.; Tracy, Russell P.; Tsai, Michael Y.; Wang, Zhe; Wang, Yuxuan; Bao, Wei; Wilkins, John T.; Yanek, Lisa R.; Zhao, Wei; Arnett, Donna K.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Chen, Yii-Der Ida; Correa, Adolfo; Cupples, L. Adrienne; Dutcher, Susan K.; Ellinor, Patrick T.; Fornage, Myriam; Gabriel, Stacey; Germer, Soren; Gibbs, Richard; He, Jiang; Kaplan, Robert C.; Kardia, Sharon L. R.; Kim, Ryan; Kooperberg, Charles; Loos, Ruth J. F.; Viaud-Martinez, Karine A.; Mathias, Rasika A.; McGarvey, Stephen T.; Mitchell, Braxton D.; Nickerson, Deborah; North, Kari E.; Psaty, Bruce M.; Redline, Susan; Reiner, Alexander P.; Vasan, Ramachandran S.; Rich, Stephen S.; Willer, Cristen; Rotter, Jerome, I; Rader, Daniel J.; Lin, Xihong; Peloso, Gina M.; Natarajan, Pradeep 分享 收藏
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease 表观基因组和转录组分析定义了肾脏疾病的核心细胞类型，基因和可靶向机制 Liu, Hongbo; Doke, Tomohito; Guo, Dong; Sheng, Xin; Ma, Ziyuan; Park, Joseph; Vy, Ha My T.; Nadkarni, Girish N.; Abedini, Amin; Miao, Zhen; Palmer, Matthew; Voight, Benjamin F.; Li, Hongzhe; Brown, Christopher D.; Ritchie, Marylyn D.; Shu, Yan; Susztak, Katalin 分享 收藏
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection Zhang, Chao; Verma, Anurag; Feng, Yuanqing; Melo, Marcelo C. R.; McQuillan, Michael; Hansen, Matthew; Lucas, Anastasia; Park, Joseph; Ranciaro, Alessia; Thompson, Simon; Rubel, Meagan A.; Campbell, Michael C.; Beggs, William; Hirbo, Jibril; Mpoloka, Sununguko Wata; Mokone, Gaonyadiwe George; Nyambo, Thomas; Meskel, Dawit Wolde; Belay, Gurja; Fokunang, Charles; Njamnshi, Alfred K.; Omar, Sabah A.; Williams, Scott M.; Rader, Daniel J.; Ritchie, Marylyn D.; de la Fuente-Nunez, Cesar; Sirugo, Giorgio; Tishkoff, Sarah A. 分享 收藏
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes 35个基因的罕见编码变异与循环脂质水平相关 -- 170,000外显子组的多祖先分析 Hindy, George; Dornbos, Peter; Chaffin, Mark D.; Liu, Dajiang J.; Wang, Minxian; Selvaraj, Margaret Sunitha; Zhang, David; Park, Joseph; Aguilar-Salinas, Carlos A.; Antonacci-Fulton, Lucinda; Ardissino, Diego; Arnett, Donna K.; Aslibekyan, Stella; Atzmon, Gil; Ballantyne, Christie M.; Barajas-Olmos, Francisco; Barzilai, Nir; Becker, Lewis C.; Bielak, Lawrence F.; Bis, Joshua C.; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Bown, Matthew J.; Brody, Jennifer A.; Broome, Jai G.; Burtt, Noel P.; Cade, Brian E.; Centeno-Cruz, Federico; Chan, Edmund; Chang, Yi-Cheng; Chen, Yii-Der I.; Cheng, Ching-Yu; Choi, Won Jung; Chowdhury, Rajiv; Contreras-Cubas, Cecilia; Cordova, Emilio J.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; Danesh, John; de Vries, Paul S.; DeFronzo, Ralph A.; Doddapaneni, Harsha; Duggirala, Ravindranath; Dutcher, Susan K.; Ellinor, Patrick T.; Emery, Leslie S.; Florez, Jose C.; Fornage, Myriam; Freedman, Barry I.; Fuster, Valentin; Garay-Sevilla, Ma. Eugenia; Garcia-Ortiz, Humberto; Germer, Soren; Gibbs, Richard A.; Gieger, Christian; Glaser, Benjamin; Gonzalez, Clicerio; Gonzalez-Villalpando, Maria Elena; Graff, Mariaelisa; Graham, Sarah E.; Grarup, Niels; Groop, Leif C.; Guo, Xiuqing; Gupta, Namrata; Han, Sohee; Hanis, Craig L.; Hansen, Torben; He, Jiang; Heard-Costa, Nancy L.; Hung, Yi-Jen; Hwang, Mi Yeong; Irvin, Marguerite R.; Islas-Andrade, Sergio; Jarvik, Gail P.; Kang, Hyun Min; Kardia, Sharon L. R.; Kelly, Tanika; Kenny, Eimear E.; Khan, Alyna T.; Kim, Bong-Jo; Kim, Ryan W.; Kim, Young Jin; Koistinen, Heikki A.; Kooperberg, Charles; Kuusisto, Johanna; Kwak, Soo Heon; Laakso, Markku; Lange, Leslie A.; Lee, Jiwon; Lee, Juyoung; Lee, Seonwook; Lehman, Donna M.; Lemaitre, Rozenn N.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lubitz, Steven A.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martin, Lisa Warsinger; Martinez-Hernandez, Angelica; Mathias, Rasika A.; McGarvey, Stephen T.; McPherson, Ruth; Meigs, James B.; Meitinger, Thomas; Melander, Olle; Mendoza-Caamal, Elvia; Metcalf, Ginger A.; Mi, Xuenan; Mohlke, Karen L.; Montasser, May E.; Moon, Jee-Young; Moreno-Macias, Hortensia; Morrison, Alanna C.; Muzny, Donna M.; Nelson, Sarah C.; Nilsson, Peter M.; O'Connell, Jeffrey R.; Orho-Melander, Marju; Orozco, Lorena; Palmer, Colin N. A.; Palmer, Nicholette D.; Park, Cheol Joo; Park, Kyong Soo; Pedersen, Oluf; Peralta, Juan M.; Peyser, Patricia A.; Post, Wendy S.; Preuss, Michael; Psatsy, Bruce M.; Qi, Qibin; Rao, D. C.; Redline, Susan; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Samani, Nilesh; Schunkert, Heribert; Schurmann, Claudia; Seo, Daekwan; Seo, Jeong-Sun; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Stilp, Adrienne M.; Tai, E. Shyong; Tam, Claudia H. T.; Taylor, Kent D.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tsai, Michael Y.; Tuomi, Tiinamaij; Tuomilehto, Jaakko; Tusie-Luna, Teresa; Udler, Miriam S.; van Dam, Rob M.; Vasan, Ramachandran S.; Martinez, Karine A. Viaud; Wang, Fei Fei; Wang, Xuzhi; Watkins, Hugh; Weeks, Daniel E.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Yanek, Lisa R.; Kathiresan, Sekar; Rader, Daniel J.; Rotter, Jerome I.; Boehnke, Michael; McCarthy, Mark I.; Willer, Cristen J.; Natarajan, Pradeep; Flannick, Jason A.; Khera, Amit V.; Peloso, Gina M. 分享 收藏
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