The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

por Gourraud, Jean-Baptiste, Barc, Julien, Thollet, Aurélie, Le Scouarnec, Solena, Le Marec, Hervé, Schott, Jean-Jacques, Redon, Richard, Probst, Vincent
Publicado 2016

TRPM4 non-selective cation channel variants in long QT syndrome

por Hof, Thomas, Liu, Hui, Sallé, Laurent, Schott, Jean-Jacques, Ducreux, Corinne, Millat, Gilles, Chevalier, Philippe, Probst, Vincent, Guinamard, Romain, Bouvagnet, Patrice
Publicado 2017

MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions

por Duval, Damien, Labbé, Pauline, Bureau, Léa, Le Tourneau, Thierry, Norris, Russell A., Markwald, Roger R., Levine, Robert, Schott, Jean-Jacques, Mérot, Jean
Publicado 2015

A need for exhaustive and standardized characterization of ion channels activity. The case of K(V)11.1

por Alameh, Malak, Oliveira-Mendes, Barbara Ribeiro, Kyndt, Florence, Rivron, Jordan, Denjoy, Isabelle, Lesage, Florian, Schott, Jean-Jacques, De Waard, Michel, Loussouarn, Gildas
Publicado 2023

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

por Persyn, Elodie, Karakachoff, Matilde, Le Scouarnec, Solena, Le Clézio, Camille, Campion, Dominique, Consortium, French Exome, Schott, Jean-Jacques, Redon, Richard, Bellanger, Lise, Dina, Christian
Publicado 2017

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

por Liu, Hui, Chatel, Stéphanie, Simard, Christophe, Syam, Ninda, Salle, Laurent, Probst, Vincent, Morel, Julie, Millat, Gilles, Lopez, Michel, Abriel, Hugues, Schott, Jean-Jacques, Guinamard, Romain, Bouvagnet, Patrice
Publicado 2013

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block

por Syam, Ninda, Chatel, Stéphanie, Ozhathil, Lijo Cherian, Sottas, Valentin, Rougier, Jean‐Sébastien, Baruteau, Alban, Baron, Estelle, Amarouch, Mohamed‐Yassine, Daumy, Xavier, Probst, Vincent, Schott, Jean‐Jacques, Abriel, Hugues
Publicado 2016

eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

por Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, Macaya, Alfons, Estivill, Xavier, Ossowski, Stephan
Publicado 2019

DZIP1 regulates mammalian cardiac valve development through a Cby1‐β‐catenin mechanism

por Guo, Lilong, Beck, Tyler, Fulmer, Diana, Ramos‐Ortiz, Sandra, Glover, Janiece, Wang, Christina, Moore, Kelsey, Gensemer, Cortney, Morningstar, Jordan, Moore, Reece, Schott, Jean‐Jacques, Le Tourneau, Thierry, Koren, Natalie, Norris, Russell A.
Publicado 2021

Genetics and pathophysiology of mitral valve prolapse

por Delwarde, Constance, Capoulade, Romain, Mérot, Jean, Le Scouarnec, Solena, Bouatia-Naji, Nabila, Yu, Mengyao, Huttin, Olivier, Selton-Suty, Christine, Sellal, Jean-Marc, Piriou, Nicolas, Schott, Jean-Jacques, Dina, Christian, Le Tourneau, Thierry
Publicado 2023

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

por Oliveira‐Mendes, Barbara, Feliciangeli, Sylvain, Ménard, Mélissa, Chatelain, Frank, Alameh, Malak, Montnach, Jérôme, Nicolas, Sébastien, Ollivier, Béatrice, Barc, Julien, Baró, Isabelle, Schott, Jean‐Jacques, Probst, Vincent, Kyndt, Florence, Denjoy, Isabelle, Lesage, Florian, Loussouarn, Gildas, De Waard, Michel
Publicado 2021

Variable Na(v)1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a (+/−) Mouse Model

por Leoni, Anne-Laure, Gavillet, Bruno, Rougier, Jean-Sébastien, Marionneau, Céline, Probst, Vincent, Le Scouarnec, Solena, Schott, Jean-Jacques, Demolombe, Sophie, Bruneval, Patrick, Huang, Christopher L. H., Colledge, William H., Grace, Andrew A., Le Marec, Hervé, Wilde, Arthur A., Mohler, Peter J., Escande, Denis, Abriel, Hugues, Charpentier, Flavien
Publicado 2010

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

por Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien
Publicado 2022

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

por Al Sayed, Zeina R., Jouni, Mariam, Gourraud, Jean‐Baptiste, Belbachir, Nadjet, Barc, Julien, Girardeau, Aurore, Forest, Virginie, Derevier, Aude, Gaignerie, Anne, Chariau, Caroline, Cimarosti, Bastien, Canac, Robin, Olchesqui, Pierre, Charpentier, Eric, Schott, Jean‐Jacques, Redon, Richard, Baró, Isabelle, Probst, Vincent, Charpentier, Flavien, Loussouarn, Gildas, Zibara, Kazem, Lamirault, Guillaume, Lemarchand, Patricia, Gaborit, Nathalie
Publicado 2021

Dysfunction of the Voltage‐Gated K(+) Channel β2 Subunit in a Familial Case of Brugada Syndrome

por Portero, Vincent, Le Scouarnec, Solena, Es‐Salah‐Lamoureux, Zeineb, Burel, Sophie, Gourraud, Jean‐Baptiste, Bonnaud, Stéphanie, Lindenbaum, Pierre, Simonet, Floriane, Violleau, Jade, Baron, Estelle, Moreau, Eléonore, Scott, Carol, Chatel, Stéphanie, Loussouarn, Gildas, O'Hara, Thomas, Mabo, Philippe, Dina, Christian, Le Marec, Hervé, Schott, Jean‐Jacques, Probst, Vincent, Baró, Isabelle, Marionneau, Céline, Charpentier, Flavien, Redon, Richard
Publicado 2016

Genetic and In Vitro Inhibition of PCSK9 and Calcific Aortic Valve Stenosis

por Perrot, Nicolas, Valerio, Vincenza, Moschetta, Donato, Boekholdt, S. Matthijs, Dina, Christian, Chen, Hao Yu, Abner, Erik, Martinsson, Andreas, Manikpurage, Hasanga D., Rigade, Sidwell, Capoulade, Romain, Mass, Elvira, Clavel, Marie-Annick, Le Tourneau, Thierry, Messika-Zeitoun, David, Wareham, Nicholas J., Engert, James C., Polvani, Gianluca, Pibarot, Philippe, Esko, Tõnu, Smith, J. Gustav, Mathieu, Patrick, Thanassoulis, George, Schott, Jean-Jacques, Bossé, Yohan, Camera, Marina, Thériault, Sébastien, Poggio, Paolo, Arsenault, Benoit J.
Publicado 2020

Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome

por Renard, Estelle, Walton, Richard D., Benoist, David, Brette, Fabien, Bru-Mercier, Gilles, Chaigne, Sébastien, Charron, Sabine, Constantin, Marion, Douard, Matthieu, Dubes, Virginie, Guillot, Bastien, Hof, Thomas, Magat, Julie, Martinez, Marine E., Michel, Cindy, Pallares-Lupon, Néstor, Pasdois, Philippe, Récalde, Alice, Vaillant, Fanny, Sacher, Frédéric, Labrousse, Louis, Rogier, Julien, Kyndt, Florence, Baudic, Manon, Schott, Jean-Jacques, Barc, Julien, Probst, Vincent, Sarlandie, Marine, Marionneau, Céline, Ashton, Jesse L., Hocini, Mélèze, Haïssaguerre, Michel, Bernus, Olivier
Publicado 2023

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

por Yagihara, Nobue, Watanabe, Hiroshi, Barnett, Phil, Duboscq‐Bidot, Laetitia, Thomas, Atack C., Yang, Ping, Ohno, Seiko, Hasegawa, Kanae, Kuwano, Ryozo, Chatel, Stéphanie, Redon, Richard, Schott, Jean‐Jacques, Probst, Vincent, Koopmann, Tamara T., Bezzina, Connie R., Wilde, Arthur A. M., Nakano, Yukiko, Aiba, Takeshi, Miyamoto, Yoshihiro, Kamakura, Shiro, Darbar, Dawood, Donahue, Brian S., Shigemizu, Daichi, Tanaka, Toshihiro, Tsunoda, Tatsuhiko, Suda, Masayoshi, Sato, Akinori, Minamino, Tohru, Endo, Naoto, Shimizu, Wataru, Horie, Minoru, Roden, Dan M., Makita, Naomasa
Publicado 2016

Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death

por Haïssaguerre, Michel, Hocini, Mélèze, Cheniti, Ghassen, Duchateau, Josselin, Sacher, Frédéric, Puyo, Stéphane, Cochet, Hubert, Takigawa, Masateru, Denis, Arnaud, Martin, Ruairidh, Derval, Nicolas, Bordachar, Pierre, Ritter, Philippe, Ploux, Sylvain, Pambrun, Thomas, Klotz, Nicolas, Massoullié, Gregoire, Pillois, Xavier, Dallet, Corentin, Schott, Jean-Jacques, Scouarnec, Solena, Ackerman, Michael J., Tester, David, Piot, Olivier, Pasquié, Jean-Luc, Leclerc, Christophe, Hermida, Jean-Sylvain, Gandjbakhch, Estelle, Maury, Philippe, Labrousse, Louis, Coronel, Ruben, Jais, Pierre, Benoist, David, Vigmond, Edward, Potse, Mark, Walton, Richard, Nademanee, Koonlawee, Bernus, Olivier, Dubois, Remi
Publicado 2018

Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes

por Behr, Elijah R., Ritchie, Marylyn D., Tanaka, Toshihiro, Kääb, Stefan, Crawford, Dana C., Nicoletti, Paola, Floratos, Aris, Sinner, Moritz F., Kannankeril, Prince J., Wilde, Arthur A. M., Bezzina, Connie R., Schulze-Bahr, Eric, Zumhagen, Sven, Guicheney, Pascale, Bishopric, Nanette H., Marshall, Vanessa, Shakir, Saad, Dalageorgou, Chrysoula, Bevan, Steve, Jamshidi, Yalda, Bastiaenen, Rachel, Myerburg, Robert J., Schott, Jean-Jacques, Camm, A. John, Steinbeck, Gerhard, Norris, Kris, Altman, Russ B., Tatonetti, Nicholas P., Jeffery, Steve, Kubo, Michiaki, Nakamura, Yusuke, Shen, Yufeng, George, Alfred L., Roden, Dan M.
Publicado 2013