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Cecilia Vitali

university of pennsylvania

14H指数
62论文数
1.2K被引数
收录论文 31
发表时间
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
err2025-01-01
err1
errOAAI
errHuang, 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
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The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD
errMED
IF11.8
err2024-08-01
err2
errOAAI
errRendel, 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
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A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids
err2024-05-01
err4
errOAAI
errHehl, 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.
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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
err2023-10-01
err3
PREAI
errVitali, Cecilia; Pavanello, Chiara; Turri, Marta; Lund-Katz, Sissel; Phillips, Michael C.; Catapano, Alberico Luigi; Baragetti, Andrea; Norata, Giuseppe Danilo; Veglia, Fabrizio; Calabresi, Laura
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A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids
err2023-05-29
err7
errOAAI
errSchneider, 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
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A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency
err2022-03-01
err12
errOAAI
errVitali, Cecilia; Bajaj, Archna; Nguyen, Christina; Schnall, Jill; Chen, Jinbo; Stylianou, Kostas; Rader, Daniel J.; Cuchel, Marina
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TRIB1 regulates LDL metabolism through CEBPα-mediated effects on the LDL receptor in hepatocytesTRIB1通过cebp α 介导的肝细胞LDL受体调节LDL代谢
err2021-11-15
err16
errOAAI
errQuiroz-Figueroa, Katherine; Vitali, Cecilia; Conlon, Donna M.; Millar, John S.; Tobias, John W.; Bauer, Robert C.; Hand, Nicholas J.; Rader, Daniel J.
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Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins
err2021-09-20
err26
errOAAI
errKhetarpal, 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.
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Exploiting Natural Genetic Variation In The Human Triglyceride Regulator APOA5 To Understand Its Function
err2021-09-01
err0
PREAI
errStankov, Sylvia; Vitali, Cecilia; Park, Joseph; Nguyen, David; Englander, S. Walter; Phillips, Michael C.; Hand, Nicholas J.; Rader, Daniel J.
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The Association between HDL-C and Subclinical Atherosclerosis Depends on CETP Plasma Concentration: Insights from the IMPROVE Study
err2021-03-11
err9
errOAAI
errColombo, 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
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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
errBRAIN
IF11.7
err2020-04-15
err46
errOAAI
errZilmer, 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.
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LITERATURE SURVEY OF LCAT DEFICIENCY: NATURAL HISTORY AND BIOMARKER IDENTIFICATION
err2019-08-01
err0
PREAI
errBajaj, A.; Vitali, C.; Cuchel, M.; Rader, D.
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HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics
err2017-11-04
err82
PREAI
errVitali, Cecilia; Khetarpal, Sumeet A.; Rader, Daniel J.
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