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PCSK9 deficiency rewires heart metabolism and drives heart failure with preserved ejection fraction
Da Dalt, Lorenzo, Castiglioni, Laura, Baragetti, Andrea, Audano, Matteo, Svecla, Monika, Bonacina, Fabrizia, Pedretti, Silvia, Uboldi, Patrizia, Benzoni, Patrizia, Giannetti, Federica, Barbuti, Andrea, Pellegatta, Fabio, Indino, Serena, Donetti, Elena, Sironi, Luigi, Mitro, Nico, Catapano, Alberico Luigi, Norata, Giuseppe Danilo
Published in European heart journal (21.08.2021)
Published in European heart journal (21.08.2021)
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Journal Article
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
Khera, Amit V., Won, Hong-Hee, Peloso, Gina M., Lawson, Kim S., Bartz, Traci M., Deng, Xuan, van Leeuwen, Elisabeth M., Natarajan, Pradeep, Emdin, Connor A., Bick, Alexander G., Morrison, Alanna C., Brody, Jennifer A., Gupta, Namrata, Nomura, Akihiro, Kessler, Thorsten, Duga, Stefano, Bis, Joshua C., van Duijn, Cornelia M., Cupples, L. Adrienne, Psaty, Bruce, Rader, Daniel J., Danesh, John, Schunkert, Heribert, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Lander, Eric, Wilson, James G., Correa, Adolfo, Boerwinkle, Eric, Merlini, Piera Angelica, Ardissino, Diego, Saleheen, Danish, Gabriel, Stacey, Kathiresan, Sekar
Published in Journal of the American College of Cardiology (07.06.2016)
Published in Journal of the American College of Cardiology (07.06.2016)
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Journal Article
Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial
Marston, Nicholas A., Kamanu, Frederick K., Nordio, Francesco, Gurmu, Yared, Roselli, Carolina, Sever, Peter S., Pedersen, Terje R., Keech, Anthony C., Wang, Huei, Lira Pineda, Armando, Giugliano, Robert P., Lubitz, Steven A., Ellinor, Patrick T., Sabatine, Marc S., Ruff, Christian T.
Published in Circulation (New York, N.Y.) (25.02.2020)
Published in Circulation (New York, N.Y.) (25.02.2020)
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Journal Article
Comprehensive characterization of protein–protein interactions perturbed by disease mutations
Cheng, Feixiong, Zhao, Junfei, Wang, Yang, Lu, Weiqiang, Liu, Zehui, Zhou, Yadi, Martin, William R., Wang, Ruisheng, Huang, Jin, Hao, Tong, Yue, Hong, Ma, Jing, Hou, Yuan, Castrillon, Jessica A., Fang, Jiansong, Lathia, Justin D., Keri, Ruth A., Lightstone, Felice C., Antman, Elliott Marshall, Rabadan, Raul, Hill, David E., Eng, Charis, Vidal, Marc, Loscalzo, Joseph
Published in Nature genetics (01.03.2021)
Published in Nature genetics (01.03.2021)
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Journal Article
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia
Tada, Hayato, Kawashiri, Masa-aki, Nohara, Atsushi, Inazu, Akihiro, Mabuchi, Hiroshi, Yamagishi, Masakazu
Published in European heart journal (21.05.2017)
Published in European heart journal (21.05.2017)
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Journal Article
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
Marco-Benedí, Victoria, Cenarro, Ana, Laclaustra, Martín, Larrea-Sebal, Asier, Jarauta, Estíbaliz, Lamiquiz-Moneo, Itziar, Calmarza, Pilar, Bea, Ana M., Plana, Núria, Pintó, Xavier, Martín, César, Civeira, Fernando
Published in Atherosclerosis (01.05.2022)
Published in Atherosclerosis (01.05.2022)
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Journal Article
PCSK9 Involves in the High-fat Diet-induced Abnormal Testicular Function of Male Mice
Cui, Zhi-hui, Ma, Yong-dan, Wang, Yi-cheng, Liu, Huan, Song, Jia Wei, Zhang, Li-xue, Guo, Wen-jing, Zhang, Xue-qin, Tu, Sha-sha, Yuan, Dongzhi, Zhang, Jin-hu, Nie, Li, Yue, Li-min
Published in Reproduction (Cambridge, England) (01.04.2023)
Published in Reproduction (Cambridge, England) (01.04.2023)
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Journal Article
Simplified Canadian Definition for Familial Hypercholesterolemia
Ruel, Isabelle, Brisson, Diane, Aljenedil, Sumayah, Awan, Zuhier, Baass, Alexis, Bélanger, Alexandre, Bergeron, Jean, Bewick, David, Brophy, James M., Brunham, Liam R., Couture, Patrick, Dufour, Robert, Francis, Gordon A., Frohlich, Jiri, Gagné, Claude, Gaudet, Daniel, Grégoire, Jean C., Gupta, Milan, Hegele, Robert A., Mancini, G.B. John, McCrindle, Brian W., Pang, Jing, Raggi, Paolo, Tu, Jack V., Watts, Gerald F., Genest, Jacques
Published in Canadian journal of cardiology (01.09.2018)
Published in Canadian journal of cardiology (01.09.2018)
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Journal Article
γGT and PCSK9 variants in subjects with hyper-LDL-cholesterolemia
Hamasaki, Masato, Kapse, Snehal, Kotani, Kazuhiko
Published in Acta bio-medica de l'Ateneo Parmense (16.12.2022)
Published in Acta bio-medica de l'Ateneo Parmense (16.12.2022)
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Journal Article
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
Tada, Hayato, Inazu, Akihiro, Mabuchi, Hiroshi, Nohara, Atsushi, Sakuma, Nagahiko, Kawashiri, Masa-aki
Published in Journal of Atherosclerosis and Thrombosis (01.09.2018)
Published in Journal of Atherosclerosis and Thrombosis (01.09.2018)
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Journal Article
Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children
Groselj, Urh, Kafol, Jan, Molk, Neza, Sedej, Katarina, Mlinaric, Matej, Sikonja, Jaka, Sustar, Ursa, Kern, Barbara Cugalj, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa
Published in Atherosclerosis (01.01.2025)
Published in Atherosclerosis (01.01.2025)
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Journal Article
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
Azar, Yara, Ludwig, Thomas E., Le Bon, Hugo, Strøm, Thea Bismo, Bluteau, Olivier, Di-Filippo, Mathilde, Carrié, Alain, Chtioui, Hedi, Béliard, Sophie, Marmontel, Oriane, Fonteille, Annie, Gebhart, Maite, Peretti, Noël, Moulin, Philippe, Ferrières, Jean, Pradignac, Alain, Farnier, Michel, Gallo, Antonio, Yelnik, Cécile, Blom, Dirk, Génin, Emmanuelle, Bogsrud, Martin Prøven, Leren, Trond P., Boileau, Catherine, Abifadel, Marianne, Rabès, Jean-Pierre, Varret, Mathilde
Published in Atherosclerosis (01.12.2024)
Published in Atherosclerosis (01.12.2024)
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Journal Article
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
Rimbert, Antoine, Vanhoye, Xavier, Coulibaly, Dramane, Marrec, Marie, Pichelin, Matthieu, Charrière, Sybil, Peretti, Noël, Valéro, René, Wargny, Matthieu, Carrié, Alain, Lindenbaum, Pierre, Deleuze, Jean-François, Genin, Emmanuelle, Redon, Richard, Rollat-Farnier, Pierre Antoine, Goxe, Didier, Degraef, Gilles, Marmontel, Oriane, Divry, Eléonore, Bigot-Corbel, Edith, Moulin, Philippe, Cariou, Bertrand, Di Filippo, Mathilde
Published in Arteriosclerosis, thrombosis, and vascular biology (01.01.2021)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.01.2021)
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Journal Article
Enhanced identification of familial hypercholesterolemia using central laboratory algorithms
Ibrahim, Shirin, Nurmohamed, Nick S., Nierman, Melchior C., de Goeij, Jim N., Zuurbier, Linda, van Rooij, Jeroen, Schonck, Willemijn A.M., de Vries, Jard, Hovingh, G. Kees, Reeskamp, Laurens F., Stroes, Erik S.G.
Published in Atherosclerosis (01.06.2024)
Published in Atherosclerosis (01.06.2024)
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Journal Article
Prediction of cardiovascular events with levels of proprotein convertase subtilisin/kexin type 9: A systematic review and meta-analysis
Vlachopoulos, Charalambos, Terentes-Printzios, Dimitrios, Georgiopoulos, Georgios, Skoumas, Ioannis, Koutagiar, Iosif, Ioakeimidis, Nikolaos, Stefanadis, Christodoulos, Tousoulis, Dimitrios
Published in Atherosclerosis (01.09.2016)
Published in Atherosclerosis (01.09.2016)
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Journal Article