Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Herve Le Marec"'
Autor:
Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract The demographical history of France remains largely understudied despite its central role toward understanding modern population structure across Western Europe. Here, by exploring publicly available Europe-wide genotype datasets together wi
Externí odkaz:
https://doaj.org/article/2cfe22713c9047a98436743628f16f58
Autor:
Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disea
Externí odkaz:
https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4
Autor:
Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uira Souto Melo, Taisuke Ishikawa, Takanori Aizawa, Amaury Guedon, Estelle Baron, ADRIEN FOUCAL, Pierre Lindenbaum, Solena Le Scouarnec, Wataru Shimizu, JEAN BAPTISTE GOURRAUD, Naomasa Makita, Herve Le Marec, Claude Vieyres, Stephan Mundlos, Vincent M. Christoffels, Takeru Makiyama, VINCENT PROBST, Jean-Jacques Schott, Julien Barc
Publikováno v:
Heart Rhythm. 19:S51-S52
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0bea031d8a8718b12dfe4e05469d154
https://doi.org/10.1016/j.hrthm.2022.03.683
https://doi.org/10.1016/j.hrthm.2022.03.683
Autor:
Romain Capoulade, Caroline Cueff, Nicolas Piriou, Claire Toquet, Stéphanie Blandin, Guillaume Guimbretiere, Toon Omen, Jan J Aalberts, Daniel Berstein, Jonathan A Berstein, Jean-Noel Trochu, Herve Le Marec, Jean Merot, Jean-Jacques Schott, Thierry Le Tourneau
Publikováno v:
Circulation. 138
Background: Filamin-A ( FLNA ) mutations have been associated with the development of mitral valve prolapse and a unique mitral valve features described as a paradoxical restrictive leaflets motion in diastole has been recently described using a comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f451864a668f5afbff5373d336c2179f
https://doi.org/10.1161/circ.138.suppl_1.17361
https://doi.org/10.1161/circ.138.suppl_1.17361
Autor:
Bastien Cimarosti, Robin Canac, Stephan De Waard, Aurore Girardeau, Anne Gaignerie, Aude Derevier, Virginie Forest, Michel Ronjat, Hervé Le Marec, Jean-Baptiste Gourraud, Patricia Lemarchand, Michel De Waard, Guillaume Lamirault, Nathalie Gaborit
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102688- (2022)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an exercise and emotional stress-induced life-threatening inherited heart rhythm disorder, characterized by an abnormal cellular calcium homeostasis. Most reported cases have been linked
Externí odkaz:
https://doaj.org/article/480ef971c3f441c0b9fa5c25d89e4e0e
Autor:
Heinrich Wieneke, Jesper Hastrup Svendsen, Jeffrey Lande, Sebastian Spencker, Juan Gabriel Martinez, Bernhard Strohmer, Lauri Toivonen, Hervé Le Marec, F. Javier Garcia‐Fernandez, Domenico Corrado, Adriana Huertas‐Vazquez, Audrey Uy‐Evanado, Carmen Rusinaru, Kyndaron Reinier, Csaba Foldesi, Wieslaw Hulak, Sumeet S. Chugh, Winfried Siffert
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 12 (2016)
BackgroundPopulation‐based studies suggest that genetic factors contribute to sudden cardiac death (SCD). Methods and ResultsIn the first part of the present study (Diagnostic Data Influence on Disease Management and Relation of Genetic Polymorphis
Externí odkaz:
https://doaj.org/article/13d608f0389f4c51bc809a9246bfd75a
Autor:
Vincent Portero, Solena Le Scouarnec, Zeineb Es‐Salah‐Lamoureux, Sophie Burel, Jean‐Baptiste Gourraud, Stéphanie Bonnaud, Pierre Lindenbaum, Floriane Simonet, Jade Violleau, Estelle Baron, Eléonore Moreau, Carol Scott, Stéphanie Chatel, Gildas Loussouarn, Thomas O'Hara, Philippe Mabo, Christian Dina, Hervé Le Marec, Jean‐Jacques Schott, Vincent Probst, Isabelle Baró, Céline Marionneau, Flavien Charpentier, Richard Redon
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 6 (2016)
BackgroundThe Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely
Externí odkaz:
https://doaj.org/article/b67e2535b2574e7c940289a9f00f97ea
Autor:
Anne-Laure Leoni, Bruno Gavillet, Jean-Sébastien Rougier, Céline Marionneau, Vincent Probst, Solena Le Scouarnec, Jean-Jacques Schott, Sophie Demolombe, Patrick Bruneval, Christopher L H Huang, William H Colledge, Andrew A Grace, Hervé Le Marec, Arthur A Wilde, Peter J Mohler, Denis Escande, Hugues Abriel, Flavien Charpentier
Publikováno v:
PLoS ONE, Vol 5, Iss 2, p e9298 (2010)
Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. We investigated the m
Externí odkaz:
https://doaj.org/article/cdbbe44739414c65b378bc6914b4ef64