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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
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
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A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids Hehl, Leonida; Creasy, Kate T.; Vitali, Cecilia; Scorletti, Eleonora; Seeling, Katharina S.; Vell, Mara S.; Rendel, Miriam D.; Conlon, Donna; Vujkovic, Marijana; Zandvakili, Inuk; Trautwein, Christian; Schneider, Kai M.; Rader, Daniel J.; Schneider, Carolin V. 分享 收藏
Apolipoprotein E isoforms differentially affect LCAT-dependent cholesterol esterification 载脂蛋白E亚型差异影响LCAT依赖性胆固醇酯化 Vitali, Cecilia; Pavanello, Chiara; Turri, Marta; Lund-Katz, Sissel; Phillips, Michael C.; Catapano, Alberico Luigi; Baragetti, Andrea; Norata, Giuseppe Danilo; Veglia, Fabrizio; Calabresi, Laura 分享 收藏
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids Schneider, Carolin; Hehl, Leonida T.; Creasy, Kate; Vitali, Cecilia S.; Vell, Mara; Vujkovic, Marijana; Park, Joe; Scorletti, Eleonora S.; Seeling, Katharina D.; Rendel, Miriam M.; Conlon, Donna; Huang, Helen; Zandvakili, Inuk; Valmiki, Swati M.; Regeneron Ctr, M. Mahmood; Schneider, Kai J.; Hussain, M. Mahmood; Rader, Daniel 分享 收藏
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Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins Khetarpal, Sumeet A.; Vitali, Cecilia; Levin, Michael G.; Klarin, Derek; Park, Joseph; Pampana, Akhil; Millar, John S.; Kuwano, Takashi; Sugasini, Dhavamani; Subbaiah, Papasani, V; Billheimer, Jeffrey T.; Natarajan, Pradeep; Rader, Daniel J. 分享 收藏
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The Association between HDL-C and Subclinical Atherosclerosis Depends on CETP Plasma Concentration: Insights from the IMPROVE Study Colombo, Gualtiero I.; Bianconi, Vanessa; Bonomi, Alice; Simonelli, Sara; Amato, Mauro; Frigerio, Beatrice; Ravani, Alessio; Vitali, Cecilia; Sansaro, Daniela; Coggi, Daniela; Mannarino, Massimo R.; Savonen, Kai P.; Kurl, Sudhir; Gigante, Bruna; Smit, Andries J.; Giral, Philippe; Tremoli, Elena; Calabresi, Laura; Veglia, Fabrizio; Pirro, Matteo; Baldassarre, Damiano 分享 收藏
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function 由GALNT2功能丧失引起的新型先天性O-连接糖基化障碍 Zilmer, Monica; Edmondson, Andrew C.; Khetarpa, Sumeet A.; Alesi, Viola; Zaki, Maha S.; Rostasy, Kevin; Madsen, Camilla G.; Lepri, Francesca R.; Sinibaldi, Lorenzo; Cusmai, Raffaella; Novelli, Antonio; Issa, Mahmoud Y.; Fenger, Christina D.; Abou Jamra, Rami; Reutter, Heiko; Briuglia, Silvana; Agolini, Emanuele; Hansen, Lars; Petaja-Repo, Ulla E.; Hintze, John; Raymond, Kimiyo M.; Liedtke, Kristen; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G.; Vitali, Cecilia; O'Brien, W. Timothy; Gardella, Elena; Rubboli, Guido; Rader, Daniel J.; Schjoldager, Katrine T.; Moller, Rikke S. 分享 收藏
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