Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Florence Kyndt"'
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:
Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon, Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, Flavien Charpentier
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103396- (2024)
Mutations in the DES gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects and arrhythmi
Externí odkaz:
https://doaj.org/article/fdac19c886c84554b341c4fcc1d7e11d
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1
Autor:
Malak Alameh, Barbara Ribeiro Oliveira-Mendes, Florence Kyndt, Jordan Rivron, Isabelle Denjoy, Florian Lesage, Jean-Jacques Schott, Michel De Waard, Gildas Loussouarn
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
hERG, the pore-forming subunit of the rapid component of the delayed rectifier K+ current, plays a key role in ventricular repolarization. Mutations in the KCNH2 gene encoding hERG are associated with several cardiac rhythmic disorders, mainly the Lo
Externí odkaz:
https://doaj.org/article/71b00d18ad514452996f646c5d8d8348
Autor:
Nicolas Piriou, Lara Marteau, Florence Kyndt, Jean Michel Serfaty, Claire Toquet, Laurianne Le Gloan, Karine Warin‐Fresse, Damien Guijarro, Thierry Le Tourneau, Emilie Conan, Aurélie Thollet, Vincent Probst, Jean‐Noël Trochu
Publikováno v:
ESC Heart Failure, Vol 7, Iss 4, Pp 1520-1533 (2020)
Abstract Aims Several data suggest that acute myocarditis could be related to genetic variants involved in familial cardiomyopathies, particularly arrhythmogenic cardiomyopathy, but the management of patients with acute myocarditis and their families
Externí odkaz:
https://doaj.org/article/d110a1a516e9430780807338e88546d5
Autor:
Barbara Oliveira‐Mendes, Sylvain Feliciangeli, Mélissa Ménard, Frank Chatelain, Malak Alameh, Jérôme Montnach, Sébastien Nicolas, Béatrice Ollivier, Julien Barc, Isabelle Baró, Jean‐Jacques Schott, Vincent Probst, Florence Kyndt, Isabelle Denjoy, Florian Lesage, Gildas Loussouarn, Michel De Waard
Publikováno v:
Clinical and Translational Medicine, Vol 11, Iss 11, Pp n/a-n/a (2021)
Abstract Background and aims Mutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life‐threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The object
Externí odkaz:
https://doaj.org/article/acbf1713166b446c8093329363ed25ac
Autor:
Estelle Renard, Richard D. Walton, David Benoist, Fabien Brette, Gilles Bru-Mercier, Sébastien Chaigne, Sabine Charron, Marion Constantin, Matthieu Douard, Virginie Dubes, Bastien Guillot, Thomas Hof, Julie Magat, Marine E. Martinez, Cindy Michel, Néstor Pallares-Lupon, Philippe Pasdois, Alice Récalde, Fanny Vaillant, Frédéric Sacher, Louis Labrousse, Julien Rogier, Florence Kyndt, Manon Baudic, Jean-Jacques Schott, Julien Barc, Vincent Probst, Marine Sarlandie, Céline Marionneau, Jesse L. Ashton, Mélèze Hocini, Michel Haïssaguerre, Olivier Bernus
Publikováno v:
JACC: Clinical Electrophysiology.
Autor:
Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud, Florence Kyndt, Marine Arnaud, Damien Minois, Emmanuelle Bourcereau, Aurélie Thollet, Jean‐François Deleuze, Emmanuelle Genin, François Wiart, Jean‐Luc Pasquié, Vincent Galand, Frédéric Sacher, Christian Dina, Richard Redon, Stéphane Bezieau, Jean‐Jacques Schott, Vincent Probst, Julien Barc
Publikováno v:
Human Mutation
Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩
Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩
International audience; Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to
Autor:
Estelle Gandjbakhch, Nathalie Roux-Buisson, Florence Kyndt, P. Jonveaux, Angélique Curjol, Philippe Charron, Pascale Richard, Céline Bordet, M. Gargiulo, I. Raji, I. Evrard, Carole Maupain
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 12:189-190
Introduction Hereditary heart diseases (cardiomyopathy & channelopathies) are most often characterized by autosomal dominant inheritance and delayed cardiac expression. The risk of complications of these diseases are sudden cardiac death and heart fa
Autor:
Caroline Rooryck, Jean-Benoit Thambo, Dominique Bozon, Florence Kyndt, Vincent Probst, Frederic Sacher, Nathalie Roux-Buisson
Publikováno v:
Journal of Cardiovascular Electrophysiology. 26:1146-1150
Sudden Death Linked to the Triadin Gene We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS
Autor:
Jean-Baptiste Gourraud, Hervé Le Marec, Richard Redon, Jean-Jacques Schott, Florence Kyndt, Vincent Probst
Publikováno v:
Cardiac Electrophysiology Clinics. 6:715-721