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195 results on '"Rabès, Jean‐Pierre"'

1. The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor

Author

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, and Varret, Mathilde

Published
2024
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3. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

Dharmayat, Kanika Inamdar, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.

Published
2024
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5. Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia

Author

Angoulvant, Denis, Aouchiche, Karine, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di Filippo, Mathilde, Dourmap, Caroline, Ducluzeau, Pierre-Henri, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pradignac, Alain, Pucheu, Yann, Rabes, Jean Pierre, Reynaud, Rachel, Rigalleau, Vincent, Schiele, François, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Ferrières, Jean, Vimont, Alexandre, Ferrières, Dorota, and Béliard, Sophie

Published
2022
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7. The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Author

Angoulvant, Denis, Beliard, Sophie, Boccara, Franck, Bruckert, Eric, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di Filippo, Mathilde, Ducluzeau, Pierre Henri, Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, Giral, Philippe, Gonbert, Sophie, Hankard, Regis, Inamo, Jocelyn, Kalmykova, Olga, Krempf, Michel, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnes, Pradignac, Alain, Rabes, Jean Pierre, Rigalleau, Vincent, Schiele, François, Sultan, Ariane, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cecile, Ziegler, Olivier, Aguado, Rocío, Alonso, Rodrigo, Álvarez-Baños, M<ce:sup loc='post">a</ce:sup> Pilar, Argüeso, Rosa, Arrieta, Francisco, Barba, Miguel Ángel, Casañas, Marta, Cepeda, José María, De Andrés, Raimundo, Díaz-Soto, Gonzalo, Díaz-Diaz, Jose Luis, Dieguez, Marta, Faedo, Ceferino, Fuentes, Francisco, Garrido, Juan A., González, Aurora, González-Bustos, Pablo, Mañas, M<ce:sup loc='post">a</ce:sup> Dolores, Mata, Pedro, Mauri, Marta, Mediavilla, Juan Diego, Michán, Alfredo, Miramontes, Pablo, Muñiz, Ovidio, Pérez, Leire, De Isla, Leopoldo Perez, Pintó, Xavier, Romero, Manuel J., Rubio, Patricia, Sánchez Muñoz-Torrero, Juan F., Vidal-Pardo, Jose I., Zambón, Daniel, Pérez de Isla, Leopoldo, Charrière, Sybil, Vimont, Alexandre, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, José L., and Béliard, Sophie

Published
2021
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9. Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

Author

Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Khalil, Yara Abou, Norrelykke, Simon F., Rzepiela, Andrzej J., Stoma, Szymon, Stebler, Michael, van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C., Dalila, Nawar, Huijkman, Nicolette C. A., Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean- Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, van der Graaf, Adriaan, van Rosmalen, Belle V., Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E., Staels, Bart, van de Sluis, Bart, Kuivenhoven, Jan Albert, and von Eckardstein, Arnold

Published
2021
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10. Exome Sequencing in Suspected Monogenic Dyslipidemias

Author

Stitziel, Nathan O, Peloso, Gina M, Abifadel, Marianne, Cefalu, Angelo B, Fouchier, Sigrid, Motazacker, M Mahdi, Tada, Hayato, Larach, Daniel B, Awan, Zuhier, Haller, Jorge F, Pullinger, Clive R, Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-Aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Gupta, Namrata, Farlow, Deborah N, Neale, Benjamin M, Daly, Mark J, Kane, John P, Freeman, Mason W, Genest, Jacques, Rader, Daniel J, Mabuchi, Hiroshi, Kastelein, John JP, Hovingh, G Kees, Averna, Maurizio R, Gabriel, Stacey, Boileau, Catherine, and Kathiresan, Sekar

Subjects
Clinical Research, Human Genome, Atherosclerosis, Genetics, Aetiology, 2.1 Biological and endogenous factors, Dyslipidemias, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Metabolism, Inborn Errors, DNA sequencing, exome, genetics, human, lipids, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology
Abstract

BackgroundExome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.Methods and resultsWe performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein cholesterol (after candidate gene sequencing excluded known genetic causes for high low-density lipoprotein cholesterol families) or high-density lipoprotein cholesterol. We used standard analytic approaches to identify candidate variants and also assigned a polygenic score to each individual to account for their burden of common genetic variants known to influence lipid levels. In 9 families, we identified likely pathogenic variants in known lipid genes (ABCA1, APOB, APOE, LDLR, LIPA, and PCSK9); however, we were unable to identify obvious genetic etiologies in the remaining 32 families, despite follow-up analyses. We identified 3 factors that limited novel gene discovery: (1) imperfect sequencing coverage across the exome hid potentially causal variants; (2) large numbers of shared rare alleles within families obfuscated causal variant identification; and (3) individuals from 15% of families carried a significant burden of common lipid-related alleles, suggesting complex inheritance can masquerade as monogenic disease.ConclusionsWe identified the genetic basis of disease in 9 of 41 families; however, none of these represented novel gene discoveries. Our results highlight the promise and limitations of exome sequencing as a discovery technique in suspected monogenic dyslipidemias. Considering the confounders identified may inform the design of future exome sequencing studies.

Published
2015

12. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Author

Dharmayat, Kanika Inamdar, primary, Vallejo-Vaz, Antonio J., additional, Stevens, Christophe A.T., additional, Brandts, Julia M., additional, Lyons, Alexander R.M., additional, Groselj, Urh, additional, Abifadel, Marianne, additional, Aguilar-Salinas, Carlos A., additional, Alhabib, Khalid, additional, Alkhnifsawi, Mutaz, additional, Almahmeed, Wael, additional, Alnouri, Fahad, additional, Alonso, Rodrigo, additional, Al-Rasadi, Khalid, additional, Ashavaid, Tester F., additional, Banach, Maciej, additional, Béliard, Sophie, additional, Binder, Christoph, additional, Bourbon, Mafalda, additional, Chlebus, Krzysztof, additional, Corral, Pablo, additional, Cruz, Diogo, additional, Descamps, Olivier S., additional, Drogari, Euridiki, additional, Durst, Ronen, additional, Ezhov, Marat V., additional, Genest, Jacques, additional, Harada-Shiba, Mariko, additional, Holven, Kirsten B., additional, Humphries, Steve E., additional, Khovidhunkit, Weerapan, additional, Lalic, Katarina, additional, Laufs, Ulrich, additional, Liberopoulos, Evangelos, additional, Roeters van Lennep, Jeanine, additional, Lima-Martinez, Marcos Miguel, additional, Lin, Jie, additional, Maher, Vincent, additional, März, Winfried, additional, Miserez, André R., additional, Mitchenko, Olena, additional, Nawawi, Hapizah, additional, Panayiotou, Andrie G., additional, Paragh, György, additional, Postadzhiyan, Arman, additional, Reda, Ashraf, additional, Reiner, Željko, additional, Reyes, Ximena, additional, Sadiq, Fouzia, additional, Sahebkar, Amirhossein, additional, Schunkert, Heribert, additional, Shek, Aleksandr B., additional, Stroes, Eric, additional, Su, Ta-Chen, additional, Subramaniam, Tavintharan, additional, Susekov, Andrey, additional, Vázquez Cárdenas, Alejandra, additional, Huong Truong, Thanh, additional, Tselepis, Alexandros D., additional, Vohnout, Branislav, additional, Wang, Luya, additional, Yamashita, Shizuya, additional, Al-Sarraf, Ahmad, additional, Al-Sayed, Nasreen, additional, Davletov, Kairat, additional, Dwiputra, Bambang, additional, Gaita, Dan, additional, Kayikcioglu, Meral, additional, Latkovskis, Gustavs, additional, Marais, A. David, additional, Thushara Matthias, Anne, additional, Mirrakhimov, Erkin, additional, Nordestgaard, Børge G., additional, Petrulioniene, Zaneta, additional, Pojskic, Belma, additional, Sadoh, Wilson, additional, Tilney, Myra, additional, Tomlinson, Brian, additional, Tybjærg-Hansen, Anne, additional, Viigimaa, Margus, additional, Catapano, Alberico L., additional, Freiberger, Tomas, additional, Hovingh, G. Kees, additional, Mata, Pedro, additional, Soran, Handrean, additional, Raal, Frederick, additional, Watts, Gerald F., additional, Schreier, Laura, additional, Bañares, Virginia, additional, Greber-Platzer, Susanne, additional, Baumgartner-Kaut, Margot, additional, de Gier, Charlotte, additional, Dieplinger, Hans, additional, Höllerl, Florian, additional, Innerhofer, Reinhold, additional, Karall, Daniela, additional, Lischka, Julia, additional, Ludvik, Bernhard, additional, Mäser, Martin, additional, Scholl-Bürgi, Sabine, additional, Thajer, Alexandra, additional, Toplak, Hermann, additional, Demeure, Fabian, additional, Mertens, Ann, additional, Balligand, Jean-Luc, additional, Stephenne, Xavier, additional, Sokal, Etienne, additional, Petrov, Ivo, additional, Goudev, Assen, additional, Nikolov, Fedya, additional, Tisheva, Snejana, additional, Yotov, Yoto, additional, Tzvetkov, Ivajlo, additional, Hegele, Robert A, additional, Gaudet, Daniel, additional, Brunham, Liam, additional, Ruel, Isabelle, additional, McCrindle, Brian, additional, Cuevas, Ada, additional, Perica, Dražen, additional, Symeonides, Phivos, additional, Trogkanis, Efstratios, additional, Kostis, Andreas, additional, Ioannou, Andreas, additional, Mouzarou, Angeliki, additional, Georgiou, Anthoula, additional, Stylianou, Andreas, additional, Miltiadous, George, additional, Iacovides, Paris, additional, Deltas, Constantinos, additional, Vrablik, Michal, additional, Urbanova, Zuzana, additional, Jesina, Pavel, additional, Tichy, Lukas, additional, Hyanek, Josef, additional, Dvorakova, Jana, additional, Cepova, Jana, additional, Sykora, Josef, additional, Buresova, Kristyna, additional, Pipek, Michal, additional, Pistkova, Eva, additional, Bartkova, Ivana, additional, S|ulakova, Astrid, additional, Toukalkova, Lenka, additional, Spenerova, Michaela, additional, Maly, Jan, additional, Benn, Marianne, additional, Bendary, Ahmed, additional, Elbahry, Atef, additional, Ferrières, Jean, additional, Ferrieres, Dorota, additional, Peretti, Noel, additional, Bruckert, Eric, additional, Gallo, Antonio, additional, Valero, René, additional, Mourre, Florian, additional, Aouchiche, Karine, additional, Reynaud, Rachel, additional, Tounian, Patrick, additional, Lemale, Julie, additional, Boccara, Franck, additional, Moulin, Philippe, additional, Charrières, Sybil, additional, Di Filippo, Mathilde, additional, Cariou, Bertrand, additional, Paillard, François, additional, Dourmap, Caroline, additional, Pradignac, Alain, additional, Verges, Bruno, additional, Simoneau, Isabelle, additional, Farnier, Michel, additional, Cottin, Yves, additional, Yelnik, Cecile, additional, Hankard, Regis, additional, Schiele, François, additional, Durlach, Vincent, additional, Sultan, Ariane, additional, Carrié, Alain, additional, Rabès, Jean-Pierre, additional, Sanin, Veronika, additional, Schmieder, Roland, additional, Ates, Sara, additional, Rizos, Christos V., additional, Skoumas, Ioannis, additional, Tziomalos, Konstantinos, additional, Rallidis, Loukianos, additional, Kotsis, Vasileios, additional, Doumas, Michalis, additional, Skalidis, Emmanouil, additional, Kolovou, Genovefa, additional, Kolovou, Vana, additional, Garoufi, Anastasia, additional, Koutagiar, Iosif, additional, Polychronopoulos, Georgios, additional, Kiouri, Estela, additional, Antza, Christina, additional, Zacharis, Evangelos, additional, Attilakos, Achilleas, additional, Sfikas, George, additional, Koumaras, Charalambos, additional, Anagnostis, Panagiotis, additional, Anastasiou, Georgia, additional, Liamis, George, additional, Adamidis, Petros-Spyridon, additional, Milionis, Haralambos, additional, Lambadiari, Vaia, additional, Stabouli, Stella, additional, Filippatos, Theodosios, additional, Mollaki, Vicky, additional, Tsaroumi, Anastasia, additional, Lamari, Frida, additional, Proyias, Pavlos, additional, Harangi, Mariann, additional, Reddy, Lakshmi Lavanya, additional, Shah, Swarup A. V, additional, Ponde, Chandrashekhar K., additional, Dalal, Jamshed J., additional, Sawhney, Jitendra P.S., additional, Verma, Ishwar C., additional, Hosseini, Susan, additional, Jamialahmadi, Tannaz, additional, Alareedh, Mohammed, additional, Shaghee, Foaad, additional, Rhadi, Sabah Hasan, additional, Abduljalal, Maryam, additional, Alfil, Sarmad, additional, Kareem, Huda, additional, Cohen, Hofit, additional, Leitersdorf, Eran, additional, Schurr, Daniel, additional, Shpitzen, Shoshi, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Casula, Manuela, additional, Galimberti, Federica, additional, Gazzotti, Marta, additional, Olmastroni, Elena, additional, Sarzani, Riccardo, additional, Ferri, Claudio, additional, Repetti, Elena, additional, Giorgino, Francesco, additional, Suppressa, Patrizia, additional, Bossi, Antonio Carlo, additional, Borghi, Claudio, additional, Muntoni, Sandro, additional, Cipollone, Francesco, additional, Scicali, Roberto, additional, Pujia, Arturo, additional, Passaro, Angelina, additional, Berteotti, Martina, additional, Pecchioli, Valerio, additional, Pisciotta, Livia, additional, Mandraffino, Giuseppe, additional, Pellegatta, Fabio, additional, Mombelli, Giuliana, additional, Branchi, Adriana, additional, Fiorenza, Anna Maria, additional, Pederiva, Cristina, additional, Werba, José Pablo, additional, Parati, Gianfranco, additional, Nascimbeni, Fabio, additional, Iughetti, Lorenzo, additional, Fortunato, Giuliana, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Calabrò, Paolo, additional, Cefalù, Angelo Baldassare, additional, Capra, Maria Elena, additional, Zambon, Alberto, additional, Pirro, Matteo, additional, Sbrana, Francesco, additional, Trenti, Chiara, additional, Minicocci, Ilenia, additional, Federici, Massimo, additional, Del Ben, Maria, additional, Buonuomo, Paola Sabrina, additional, Moffa, Simona, additional, Pipolo, Antonio, additional, Citroni, Nadia, additional, Guardamagna, Ornella, additional, Lia, Salvatore, additional, Benso, Andrea, additional, Biolo, Gianni Biolo, additional, Maroni, Lorenzo, additional, Lupi, Alessandro, additional, Bonanni, Luca, additional, Rinaldi, Elisabetta, additional, Zenti, Maria Grazia, additional, Masuda, Daisaku, additional, Mahfouz, Linda, additional, Jambart, Selim, additional, Ayoub, Carine, additional, Ghaleb, Youmna, additional, Kasim, Noor Alicezah Mohd, additional, Nor, Noor Shafina Mohd, additional, Al-Khateeb, Alyaa, additional, Kadir, Siti Hamimah Sheikh Abdul, additional, Chua, Yung-An, additional, Razman, Aimi Zafira, additional, Nazli, Sukma Azureen, additional, Ranai, Norashikin Mohd, additional, Latif, Ahmad Zubaidi Abd, additional, Torres, María Teresa Magaña, additional, Mehta, Roopa, additional, Martagon, Alexandro J., additional, Ramirez, Gabriela A. Galan, additional, Antonio-Villa, Neftali Eduardo, additional, Vargas-Vazquez, Arsenio, additional, Elias-Lopez, Daniel, additional, Retana, Gustavo Gonzalez, additional, Encinas, Bethsabel Rodriguez, additional, Macias, Jose J. Ceballos, additional, Zazueta, Alejandro Romero, additional, Alvarado, Rocio Martinez, additional, Portano, Julieta D. Morales, additional, Lopez, Humberto Alvares, additional, Sauque-Reyna, Leobardo, additional, Gomez Herrera, Laura G., additional, Simental Mendia, Luis E., additional, Aguilar, Humberto Garcia, additional, Cooremans, Elizabeth Ramirez, additional, Aparicio, Berenice Pe~na, additional, Zubieta, Victoria Mendoza, additional, Gonzalez, Perla A. Carrillo, additional, Ferreira-Hermosillo, Aldo, additional, Portilla, Nacu Caracas, additional, Dominguez, Guadalupe Jimenez, additional, Garcia, Alinna Y. Ruiz, additional, Arriaga Cazares, Hector E., additional, Gonzalez Gonzalez, Jesus R., additional, Mendez Valencia, Carla V., additional, Padilla Padilla, Francisco G., additional, Prado, Ramon Madriz, additional, De los Rios Ibarra, Manuel O., additional, Arjona Villica~na, Ruy D., additional, Acevedo Rivera, Karina J., additional, Carrera, Ricardo Allende, additional, Alvarez, Jose A., additional, Amezcua Martinez, Jose C., additional, Barrera Bustillo, Manuel de los Reyes, additional, Vargas, Gonzalo Carazo, additional, Chacon, Roberto Contreras, additional, Figueroa Andrade, Mario H., additional, Ortega, Ashanty Flores, additional, Alcala, Hector Garcia, additional, Garcia de Leon, Laura E., additional, Guzman, Berenice Garcia, additional, Gardu~no Garcia, Jose J., additional, Garnica Cuellar, Juan C., additional, Gomez Cruz, Jose R., additional, Garcia, Anell Hernandez, additional, Holguin Almada, Jesus R., additional, Herrera, Ursulo Juarez, additional, Sobrevilla, Fabiola Lugo, additional, Rodriguez, Eduardo Marquez, additional, Sibaja, Cristina Martinez, additional, Medrano Rodriguez, Alma B., additional, Morales Oyervides, Jose C., additional, Perez Vazquez, Daniel I., additional, Reyes Rodriguez, Eduardo A., additional, Osorio, Ma. Ludivina Robles, additional, Saucedo, Juan Rosas, additional, Tamayo, Margarita Torres, additional, Valdez Talavera, Luis A., additional, Vera Arroyo, Luis E., additional, Zepeda Carrillo, Eloy A., additional, Galema-Boers, Annette, additional, Weigman, Albert, additional, Bogsrud, Martin P., additional, Malik, Munir, additional, Shah, Saeedullah, additional, Khan, Sabeen Abid, additional, Rana, Muhammad Asim, additional, Batool, Hijab, additional, Starostecka, Ewa, additional, Konopka, Agnieszka, additional, Lewek, Joanna, additional, Bielecka-Dąbrowa, Agata, additional, Gach, Agnieszka, additional, Jóźwiak, Jacek, additional, Pajkowski, Marcin, additional, Romanowska-Kocejko, Marzena, additional, Żarczyńska-Buchowiecka, Marta, additional, Hellman, Marcin, additional, Chmara, Magdalena, additional, Wasąg, Bartosz, additional, Parczewska, Aleksandra, additional, Gilis-Malinowska, Natasza, additional, Borowiec-Wolna, Justyna, additional, Stróżyk, Aneta, additional, Michalska-Grzonkowska, Aleksandra, additional, Chlebus, Izabela, additional, Kleinschmidt, Mariola, additional, Wojtecka, Agnieszka, additional, Zdrojewski, Tomasz, additional, Myśliwiec, Małgorzata, additional, Hennig, Matylda, additional, Medeiros, Ana Margarida, additional, Alves, Ana Catarina, additional, Almeida, Ana Filipa, additional, Lopes, Andreia, additional, Guerra, António, additional, Bilhoto, Carla, additional, Simões, Fernando, additional, Silva, Francisco, additional, Lobarinhas, Goreti, additional, Gama, Guida, additional, Palma, Isabel, additional, Salgado, José Miguel, additional, Matos, Luísa Diogo, additional, Moura, Márcio de, additional, Virtuoso, Maria João, additional, Tavares, Mónica, additional, Ferreira, Patrícia, additional, Pais, Patrícia, additional, Garcia, Paula, additional, Coelho, Raquel, additional, Ribeiro, Raquel, additional, Correia, Susana, additional, Sadykova, Dinara, additional, Slastnikova, Evgenia, additional, Alammari, Dalal, additional, Mawlawi, Horia Ahmed, additional, Alsahari, Atif, additional, Khudary, Alia Abdullah, additional, Alrowaily, Nawal Lafi, additional, Rajkovic, Natasa, additional, Popovic, Ljiljana, additional, Singh, Sandra, additional, Rasulic, Iva, additional, Petakov, Ana, additional, Lalic, Nebojsa M., additional, Peng, Fabian Kok, additional, Vasanwala, Rashida Farhan, additional, Venkatesh, Sreedharan Aravind, additional, Raslova, Katarina, additional, Fabryova, Lubomira, additional, Nociar, Jan, additional, Šaligova, Jana, additional, Potočňáková, Ludmila, additional, Kozárová, Miriam, additional, Varga, Tibor, additional, Kadurova, Michaela, additional, Debreova, Marianna, additional, Novodvorsky, Peter, additional, Gonova, Katarina, additional, Klabnik, Alexander, additional, Buganova, Ingrid, additional, Battelino, Tadej, additional, Bizjan, Barbara Jenko, additional, Debeljak, Marusa, additional, Kovac, Jernej, additional, Mlinaric, Matej, additional, Molk, Neza, additional, Sikonja, Jaka, additional, Sustar, Ursa, additional, Podkrajsek, Katarina Trebusak, additional, Muñiz-Grijalvo, Ovidio, additional, Díaz-Díaz, Jose Luis, additional, de Andrés, Raimundo, additional, Fuentes-Jiménez, Francisco, additional, Blom, Dirk, additional, Miserez, Eleonore B., additional, Shipton, Janine L., additional, Ganokroj, Poranee, additional, Futema, Marta, additional, Ramaswami, Uma, additional, Alieva, Rano B., additional, Fozilov, Khurshid G., additional, Khoshimov, Shavkat U., additional, Nizamov, Ulugbek I., additional, Abdullaeva, Guzal J., additional, Kan, Liliya E., additional, Abdullaev, Alisher A., additional, Zakirova, Daria V., additional, Do, Doan-Loi, additional, Nguyen, Mai-Ngoc-Thi, additional, Kim, Ngoc-Thanh, additional, Le, Thanh-Tung, additional, Le, Hong-An, additional, Santos, Raul, additional, and Ray, Kausik K., additional

Published
2023
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17. High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

Author

Angoulvant, D., Béliard, S., Benlian, P., Boileau, C., Boccara, F., Bruckert, E., Cariou, B., Carreau, V., Carrié, A., Charrière, S., Di Filippo, M., Ducluzeau, P.H., Dulong, S., Durlach, V., Farnier, M., Ferrari, E., Ferrières, J., Gallo, A., Girardet, J.P., Hankard, R., Krempf, M., Lalau, J.D., Lefort, B., Lemale, J., Moulin, P., Paillard, F., Peretti, N., Pradignac, A., Pucheu, Y., Rabès, J.P., Saheb, S., Sultan, A., Tounian, P., Valéro, R., Varret, M., Vergès, B., Yelnik, C., Ziegler, O., Béliard, Sophie, Boccara, Franck, Cariou, Bertrand, Carrié, Alain, Collet, Xavier, Farnier, Michel, Ferrières, Jean, Krempf, Michael, Peretti, Noël, Rabès, Jean-Pierre, Varret, Mathilde, Vimont, Alexandre, Charrière, Sybil, and Bruckert, Eric

Published
2018
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22. Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

Author

Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Khalil, Yara Abou, Norrelykke, Simon F., Rzepiela, Andrzej J., Stoma, Szymon, Stebler, Michael, Van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C., Dalila, Nawar, Huijkman, Nicolette C.A., Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, Van Der Graaf, Adriaan, Van Rosmalen, Belle V., Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E., Staels, Bart, Van De Sluis, Bart, Kuivenhoven, Jan Albert, Von Eckardstein, Arnold, Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Khalil, Yara Abou, Norrelykke, Simon F., Rzepiela, Andrzej J., Stoma, Szymon, Stebler, Michael, Van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C., Dalila, Nawar, Huijkman, Nicolette C.A., Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, Van Der Graaf, Adriaan, Van Rosmalen, Belle V., Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E., Staels, Bart, Van De Sluis, Bart, Kuivenhoven, Jan Albert, and Von Eckardstein, Arnold

Abstract

BACKGROUND: The LDLR (low-density lipoprotein receptor) in the liver is the major determinant of LDL-cholesterol levels in human plasma. The discovery of genes that regulate the activity of LDLR helps to identify pathomechanisms of hypercholesterolemia and novel therapeutic targets against atherosclerotic cardiovascular disease. METHODS: We performed a genome-wide RNA interference screen for genes limiting the uptake of fluorescent LDL into Huh-7 hepatocarcinoma cells. Top hit genes were validated by in vitro experiments as well as analyses of data sets on gene expression and variants in human populations. RESULTS: The knockdown of 54 genes significantly inhibited LDL uptake. Fifteen of them encode for components or interactors of the U2-spliceosome. Knocking down any one of 11 out of 15 genes resulted in the selective retention of intron 3 of LDLR. The translated LDLR fragment lacks 88% of the full length LDLR and is detectable neither in nontransfected cells nor in human plasma. The hepatic expression of the intron 3 retention transcript is increased in nonalcoholic fatty liver disease as well as after bariatric surgery. Its expression in blood cells correlates with LDL-cholesterol and age. Single nucleotide polymorphisms and 3 rare variants of one spliceosome gene, RBM25, are associated with LDL-cholesterol in the population and familial hypercholesterolemia, respectively. Compared with overexpression of wild-type RBM25, overexpression of the 3 rare RBM25 mutants in Huh-7 cells led to lower LDL uptake. CONCLUSIONS: We identified a novel mechanism of posttranscriptional regulation of LDLR activity in humans and associations of genetic variants of RBM25 with LDL-cholesterol levels.

Published
2022

24. Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

Author

Abifadel, Marianne, Guerin, Maryse, Benjannet, Suzanne, Rabès, Jean-Pierre, Le Goff, Wilfried, Julia, Zélie, Hamelin, Josée, Carreau, Valérie, Varret, Mathilde, Bruckert, Eric, Tosolini, Laurent, Meilhac, Olivier, Couvert, Philippe, Bonnefont-Rousselot, Dominique, Chapman, John, Carrié, Alain, Michel, Jean-Baptiste, Prat, Annik, Seidah, Nabil G., and Boileau, Catherine

Published
2012
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27. APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

Author

Abou Khalil, Yara, primary, Marmontel, Oriane, additional, Ferrières, Jean, additional, Paillard, François, additional, Yelnik, Cécile, additional, Carreau, Valérie, additional, Charrière, Sybil, additional, Bruckert, Eric, additional, Gallo, Antonio, additional, Giral, Philippe, additional, Philippi, Anne, additional, Bluteau, Olivier, additional, Boileau, Catherine, additional, Abifadel, Marianne, additional, Di-Filippo, Mathilde, additional, Carrié, Alain, additional, Rabès, Jean-Pierre, additional, and Varret, Mathilde, additional

Published
2022
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29. Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Author

Ghaleb, Youmna, primary, Elbitar, Sandy, additional, Philippi, Anne, additional, El Khoury, Petra, additional, Azar, Yara, additional, Andrianirina, Miangaly, additional, Loste, Alexia, additional, Abou-Khalil, Yara, additional, Nicolas, Gaël, additional, Le Borgne, Marie, additional, Moulin, Philippe, additional, Di-Filippo, Mathilde, additional, Charrière, Sybil, additional, Farnier, Michel, additional, Yelnick, Cécile, additional, Carreau, Valérie, additional, Ferrières, Jean, additional, Lecerf, Jean-Michel, additional, Derksen, Alexa, additional, Bernard, Geneviève, additional, Gauthier, Marie-Soleil, additional, Coulombe, Benoit, additional, Lütjohann, Dieter, additional, Fin, Bertrand, additional, Boland, Anne, additional, Olaso, Robert, additional, Deleuze, Jean-François, additional, Rabès, Jean-Pierre, additional, Boileau, Catherine, additional, Abifadel, Marianne, additional, and Varret, Mathilde, additional

Published
2022
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30. Featured Cover

Author

Germain, Dominique P., primary, Levade, Thierry, additional, Hachulla, Eric, additional, Knebelmann, Bertrand, additional, Lacombe, Didier, additional, Seguin, Vanessa Leguy, additional, Nguyen, Karine, additional, Noël, Esther, additional, and Rabès, Jean‐Pierre, additional

Published
2022
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32. Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

Author

Zanoni, Paolo, primary, Panteloglou, Grigorios, additional, Othman, Alaa, additional, Haas, Joel T., additional, Meier, Roger, additional, Rimbert, Antoine, additional, Futema, Marta, additional, Abou Khalil, Yara, additional, Norrelykke, Simon F., additional, Rzepiela, Andrzej J., additional, Stoma, Szymon, additional, Stebler, Michael, additional, van Dijk, Freerk, additional, Wijers, Melinde, additional, Wolters, Justina C., additional, Dalila, Nawar, additional, Huijkman, Nicolette C. A., additional, Smit, Marieke, additional, Gallo, Antonio, additional, Carreau, Valérie, additional, Philippi, Anne, additional, Rabès, Jean-Pierre, additional, Boileau, Catherine, additional, Visentin, Michele, additional, Vonghia, Luisa, additional, Weyler, Jonas, additional, Francque, Sven, additional, Verrijken, An, additional, Verhaegen, Ann, additional, Van Gaal, Luc, additional, van der Graaf, Adriaan, additional, van Rosmalen, Belle V., additional, Robert, Jerome, additional, Velagapudi, Srividya, additional, Yalcinkaya, Mustafa, additional, Keel, Michaela, additional, Radosavljevic, Silvija, additional, Geier, Andreas, additional, Tybjaerg-Hansen, Anne, additional, Varret, Mathilde, additional, Rohrer, Lucia, additional, Humphries, Steve E., additional, Staels, Bart, additional, van de Sluis, Bart, additional, Kuivenhoven, Jan Albert, additional, and von Eckardstein, Arnold, additional

Published
2022
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35. Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

Author

Ayoub, Carine, primary, Azar, Yara, additional, Abou-Khalil, Yara, additional, Ghaleb, Youmna, additional, Elbitar, Sandy, additional, Halaby, Georges, additional, Jambart, Selim, additional, Gannagé-Yared, Marie-Hélène, additional, Yaghi, Cesar, additional, Saade Riachy, Carole, additional, El Khoury, Ralph, additional, Rabès, Jean-Pierre, additional, Varret, Mathilde, additional, Boileau, Catherine, additional, El Khoury, Petra, additional, and Abifadel, Marianne, additional

Published
2021
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38. Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation

Author

Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Berge, Knut Erik, Devillers, Martine, Luc, Gérald, Lecerf, Jean-Michel, Tosolini, Laurent, Erlich, Danièle, Peloso, Gina M., Stitziel, Nathan, Nitchké, Patrick, Jaïs, Jean-Philippe, Abifadel, Marianne, Kathiresan, Sekar, Leren, Trond Paul, Rabès, Jean-Pierre, Boileau, Catherine, and Varret, Mathilde

Published
2013
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39. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Author

Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, and Rabès, Jean‐Pierre

Subjects
ANGIOKERATOMA corporis diffusum, GENETIC variation, X-linked genetic disorders, MEDICAL genetics, MEDICAL genomics, EXOMES, X chromosome
Abstract

Fabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase residual activity, patient's age and gender and, for females, X chromosome inactivation. Over 1000 variants have been identified, many through screening protocols more susceptible to disclose non‐pathogenic variants or variants of unknown significance (VUS). This, together with the non‐specificity of some FD symptoms, challenges physicians attempting to interpret GLA variants. The traditional way to interpreting pathogenicity is based on a combined approach using allele frequencies, genomic databases, global and disease‐specific clinical databases, and in silico tools proposed by the American College of Medical Genetics and Genomics. Here, a panel of FD specialists convened to study how expertise may compare with the traditional approach. Several GLA VUS, highly controversial in the literature (p.Ser126Gly, p.Ala143Thr, p.Asp313Tyr), were re‐analyzed through reviews of patients' charts. The same was done for pathogenic GLA variants with some specificities. Our data suggest that input of geneticists and physicians with wide expertise in disease phenotypes, prevalence, inheritance, biomarkers, alleles frequencies, disease‐specific databases, and literature greatly contribute to a more accurate interpretation of the pathogenicity of variants, bringing a significant additional value over the traditional approach. [ABSTRACT FROM AUTHOR]

Published
2022
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40. Genetic Heterogeneity of Autosomal Dominant Hypercholesterolemia in Mexico

Author

Robles-Osorio, Ludivina, Huerta-Zepeda, Alejandra, Ordóñez, Ma. Luisa, Canizales-Quinteros, Samuel, Díaz-Villaseñor, Andrea, Gutiérrez-Aguilar, Ruth, Riba, Laura, Huertas-Vázquez, Adriana, Rodríguez-Torres, Maribel, Gómez-Díaz, Rita A., Salinas, Saul, Ongay-Larios, Laura, Codiz-Huerta, Guadalupe, Mora-Cabrera, Minerva, Mehta, Roopa, Gómez Pérez, Francisco J., Rull, Juan A., Rabès, Jean-Pierre, Tusié-Luna, Ma. Teresa, Durán-Vargas, Socorro, and Aguilar-Salinas, Carlos A.

Published
2006
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46. High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

Author

Béliard, Sophie, primary, Boccara, Franck, additional, Cariou, Bertrand, additional, Carrié, Alain, additional, Collet, Xavier, additional, Farnier, Michel, additional, Ferrières, Jean, additional, Krempf, Michael, additional, Peretti, Noël, additional, Rabès, Jean-Pierre, additional, Varret, Mathilde, additional, Vimont, Alexandre, additional, Charrière, Sybil, additional, Bruckert, Eric, additional, Angoulvant, D., additional, Béliard, S., additional, Benlian, P., additional, Boileau, C., additional, Boccara, F., additional, Bruckert, E., additional, Cariou, B., additional, Carreau, V., additional, Carrié, A., additional, Charrière, S., additional, Di Filippo, M., additional, Ducluzeau, P.H., additional, Dulong, S., additional, Durlach, V., additional, Farnier, M., additional, Ferrari, E., additional, Ferrières, J., additional, Gallo, A., additional, Girardet, J.P., additional, Hankard, R., additional, Krempf, M., additional, Lalau, J.D., additional, Lefort, B., additional, Lemale, J., additional, Moulin, P., additional, Paillard, F., additional, Peretti, N., additional, Pradignac, A., additional, Pucheu, Y., additional, Rabès, J.P., additional, Saheb, S., additional, Sultan, A., additional, Tounian, P., additional, Valéro, R., additional, Varret, M., additional, Vergès, B., additional, Yelnik, C., additional, and Ziegler, O., additional

Published
2018
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49. New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

Author

Elbitar, Sandy, primary, Susan-Resiga, Delia, additional, Ghaleb, Youmna, additional, El Khoury, Petra, additional, Peloso, Gina, additional, Stitziel, Nathan, additional, Rabès, Jean-Pierre, additional, Carreau, Valérie, additional, Hamelin, Josée, additional, Ben-Djoudi-Ouadda, Ali, additional, Bruckert, Eric, additional, Boileau, Catherine, additional, Seidah, Nabil G., additional, Varret, Mathilde, additional, and Abifadel, Marianne, additional

Published
2018
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50. A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Author

Varret, Mathilde, Rabès, Jean-Pierre, Saint-Jore, Bruno, Cenarro, Ana, Marinoni, Jean-Christophe, Civeira, Fernando, Devillers, Martine, Krempf, Michel, Coulon, Monique, Thiart, Rochelle, Kotze, Maritha J., Schmidt, Helena, Buzzi, Jean-Claude, Kostner, Gert M., Bertolini, Stephano, Pocovi, Miguel, Rosa, Alberto, Farnier, Michel, Martinez, Maria, Junien, Claudine, and Boileau, Catherine

Published
1999
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