日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity

携带破坏肌肉生长抑制素基因(MSTN)功能变异的人类,其骨骼肌质量和力量增加,脂肪含量减少。

Herman, Joseph L; Dornbos, Peter; Landheer, Karl; Geraghty, Benjamin J; Egerman, Marc A; Phan, Duc; Germino, Mary; Mastaitis, Jason W; Walls, Johnathon R; Lotta, Luca A; Abecasis, Gonçalo; Baras, Aris; Altarejos, Judith Y; Sleeman, Mark W; Melander, Olle; Shavlakadze, Tea; Yancopoulos, George D; Bovijn, Jonas; Marchini, Jonathan; Glass, David J

Effect of PCSK9 Inhibition With Alirocumab in Patients With Probable Familial Hypercholesterolemia or Type III Hyperlipoproteinemia: Results From the ODYSSEY OUTCOMES Trial

使用阿利西尤单抗抑制PCSK9对可能患有家族性高胆固醇血症或III型高脂蛋白血症患者的影响:ODYSSEY OUTCOMES试验的结果

Geba, Gregory P; Mohammadi, Kusha A; Damask, Amy; Paulding, Charles; Lotta, Luca A; Hindy, George; Pordy, Robert; Manvelian, Garen; Shapiro, Michael D; Bittner, Vera A; Bhatt, Deepak L; Szarek, Michael; Schwartz, Gregory G; Steg, Ph Gabriel; Fazio, Sergio

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus

肽酰甘氨酸α-酰胺化单加氧酶缺乏是肌少症性糖尿病的病因

Giontella, Alice; Åkerlund, Mikael; Bronton, Kevin; Fava, Cristiano; Lotta, Luca A; Baras, Aris; Overton, John D; Jones, Marcus; Bergmann, Andreas; Kaufmann, Paul; Ilina, Yulia; Melander, Olle

Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study

一项基于人群队列研究的血栓风险测定,通过ABO、F8和VWF变异体进行评估

Manderstedt, Eric; Halldén, Christer; Lind-Halldén, Christina; Elf, Johan; Svensson, Peter J; Engström, Gunnar; Melander, Olle; Baras, Aris; Lotta, Luca A; Zöller, Bengt

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways

种系变异通过不同的途径影响慢性肝病进展

Vujkovic, Marijana; Kaplan, David E; Ghouse, Jonas; Loza, Bao-Li; Brancale, Joseph; Lewis, Adam; Zhang, David Y; Levin, Michael G; Veatch, Olivia J; Johnson, Josephine P; Schneider, Carolin V; Verma, Anurag; Wangensteen, Kirk J; Scorletti, Eleonora; Gill, Dipender; Konkwo, Chigoziri; Garófalo, Alexis M; Guare, Lindsay A; Schwantes-An, Tae-Wi; Abreu, Marco V; Gellert-Kristensen, Helene; Pedersen, Ole B; Erikstrup, Christian; Bundgaard, Johan S; Sørensen, Erik; Ostrowski, Sisse R; Bundgaard, Henning; Lee, Kyung Min; Shaked, Abraham; Olthoff, Kim M; Hoteit, Maarouf A; Speliotes, Elizabeth K; Chen, Yanhua; Oliveri, Antonino; Yin, Lishi; Valenti, Luca Vc; Malvestiti, Francesco; Marchelli, Daniele; Miano, Lorenzo; Anstee, Quentin M; Daly, Ann K; Cordell, Heather J; Darlay, Rebecca; Verweij, Niek; Hindy, George; Locke, Adam; Matsuura, Kentaro; Asrani, Sumeet K; Testa, Giuliano; Lotta, Luca A; Jones, Marcus B; Dochtermann, Daniel R; Norden-Krichmar, Trina M; Teerlink, Craig C; Devineni, Poornima; Pyarajan, Saiju; Rader, Daniel J; Tanaka, Yasuhito; Voight, Benjamin F; Vilarinho, Silvia; Bastarache, Lisa A; Stender, Stefan; Tsao, Philip S; Morgan, Timothy R; Lynch, Julie A; Chang, Kyong-Mi

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

基于肾脏多组学的遗传评分卡揭示了趋同的编码和调控变异

Liu, Hongbo; Abedini, Amin; Ha, Eunji; Ma, Ziyuan; Sheng, Xin; Dumoulin, Bernhard; Qiu, Chengxiang; Aranyi, Tamas; Li, Shen; Dittrich, Nicole; Chen, Hua-Chang; Tao, Ran; Tarng, Der-Cherng; Hsieh, Feng-Jen; Chen, Shih-Ann; Yang, Shun-Fa; Lee, Mei-Yueh; Kwok, Pui-Yan; Wu, Jer-Yuarn; Chen, Chien-Hsiun; Khan, Atlas; Limdi, Nita A; Wei, Wei-Qi; Walunas, Theresa L; Karlson, Elizabeth W; Kenny, Eimear E; Luo, Yuan; Kottyan, Leah; Connolly, John J; Jarvik, Gail P; Weng, Chunhua; Shang, Ning; Cole, Joanne B; Mercader, Josep M; Mandla, Ravi; Majarian, Timothy D; Florez, Jose C; Haas, Mary E; Lotta, Luca A; Drivas, Theodore G; Vy, Ha My T; Nadkarni, Girish N; Wiley, Laura K; Wilson, Melissa P; Gignoux, Christopher R; Rasheed, Humaira; Thomas, Laurent F; Åsvold, Bjørn Olav; Brumpton, Ben M; Hallan, Stein I; Hveem, Kristian; Zheng, Jie; Hellwege, Jacklyn N; Zawistowski, Matthew; Zöllner, Sebastian; Franceschini, Nora; Hu, Hailong; Zhou, Jianfu; Kiryluk, Krzysztof; Ritchie, Marylyn D; Palmer, Matthew; Edwards, Todd L; Voight, Benjamin F; Hung, Adriana M; Susztak, Katalin

Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank

英国生物银行中基因组、外显子组和插补法获得的遗传关联信号产量

Gaynor, Sheila M; Joseph, Tyler; Bai, Xiaodong; Zou, Yuxin; Boutkov, Boris; Maxwell, Evan K; Delaneau, Olivier; Hofmeister, Robin J; Krasheninina, Olga; Balasubramanian, Suganthi; Marcketta, Anthony; Backman, Joshua; Reid, Jeffrey G; Overton, John D; Lotta, Luca A; Marchini, Jonathan; Salerno, William J; Baras, Aris; Abecasis, Goncalo R; Thornton, Timothy A

NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke

NOTCH3 p.Arg1231Cys 突变在南亚人群中显著富集,且与中风相关。

Rodriguez-Flores, Juan Lorenzo; Khalid, Shareef; Parikshak, Neelroop; Rasheed, Asif; Ye, Bin; Kapoor, Manav; Backman, Joshua; Sepehrband, Farshid; Gioia, Silvio Alessandro Di; Gelfman, Sahar; De, Tanima; Banerjee, Nilanjana; Sharma, Deepika; Martinez, Hector; Castaneda, Sofia; D'Ambrosio, David; Zhang, Xingmin A; Xun, Pengcheng; Tsai, Ellen; Tsai, I-Chun; Khan, Maleeha Zaman; Jahanzaib, Muhammad; Mian, Muhammad Rehan; Liaqat, Muhammad Bilal; Mahmood, Khalid; Salam, Tanvir Us; Hussain, Muhammad; Iqbal, Javed; Aslam, Faizan; Cantor, Michael N; Tzoneva, Gannie; Overton, John; Marchini, Jonathan; Reid, Jeffrey G; Baras, Aris; Verweij, Niek; Lotta, Luca A; Coppola, Giovanni; Karalis, Katia; Economides, Aris; Fazio, Sergio; Liedtke, Wolfgang; Danesh, John; Kamal, Ayeesha; Frossard, Philippe; Coleman, Thomas; Shuldiner, Alan R; Saleheen, Danish

Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk

罕见和常见基因变异与心房颤动风险相关

Vad, Oliver B; Monfort, Laia M; Paludan-Müller, Christian; Kahnert, Konstantin; Diederichsen, Søren Z; Andreasen, Laura; Lotta, Luca A; Nielsen, Jonas B; Lundby, Alicia; Svendsen, Jesper H; Olesen, Morten S

Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes

作者更正:常见和罕见变异与克隆性造血表型的关联

Kessler, Michael D; Damask, Amy; O'Keeffe, Sean; Banerjee, Nilanjana; Li, Dadong; Watanabe, Kyoko; Marketta, Anthony; Van Meter, Michael; Semrau, Stefan; Horowitz, Julie; Tang, Jing; Kosmicki, Jack A; Rajagopal, Veera M; Zou, Yuxin; Houvras, Yariv; Ghosh, Arkopravo; Gillies, Christopher; Mbatchou, Joelle; White, Ryan R; Verweij, Niek; Bovijn, Jonas; Parikshak, Neelroop N; LeBlanc, Michelle G; Jones, Marcus; Glass, David J; Lotta, Luca A; Cantor, Michael N; Atwal, Gurinder S; Locke, Adam E; Ferreira, Manuel A R; Deering, Raquel; Paulding, Charles; Shuldiner, Alan R; Thurston, Gavin; Ferrando, Adolfo A; Salerno, Will; Reid, Jeffrey G; Overton, John D; Marchini, Jonathan; Kang, Hyun M; Baras, Aris; Abecasis, Gonçalo R; Jorgenson, Eric