Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Stéphane, Zaffran"'
Autor:
Hager Jaouadi, Victor Morel, Helene Martel, Pierre Lindenbaum, Lorcan Lamy de la Chapelle, Marine Herbane, Claire Lucas, Frédérique Magdinier, Habib Gilbert, Jean-Jacques Schott, Stéphane Zaffran, Karine Nguyen
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundApproximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time.MethodsIn this study, we conducted a gene-centric reanalysis o
Externí odkaz:
https://doaj.org/article/130cb58808844f979f98d6641a127d63
Autor:
Lilia Kraoua, Assaad Louati, Sarra Ben Ahmed, Nesrine Abida, Monia Khemiri, Khaled Menif, Ridha Mrad, Stéphane Zaffran, Hager Jaouadi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause of heart failure and cardiac death at a y
Externí odkaz:
https://doaj.org/article/76c100c1d70747fd84a8abf7825d3273
Autor:
Gaëlle Odelin, Adèle Faucherre, Damien Marchese, Amélie Pinard, Hager Jaouadi, Solena Le Scouarnec, FranceGenRef Consortium, Raphaël Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Théron, Jean-François Avierinos, Chris Jopling, Gwenaëlle Collod-Béroud, René Rezsohazy, Stéphane Zaffran
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads
Externí odkaz:
https://doaj.org/article/f7e23b8b54634e9f9ca2535ee58a075d
Autor:
Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Théron, Adèle Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-François Avierinos, Stéphane Zaffran
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in bicuspid aortic valve (BAV) and other huma
Externí odkaz:
https://doaj.org/article/72c2a62813bd45c6b40532aff1dc7d9b
Autor:
Elisabeth Petolat, Alexis Theron, Noemie Resseguier, Cyprien Fabre, Giulia Norscini, Rita Badaoui, Gilbert Habib, Frederic Collart, Stéphane Zaffran, Alizée Porto, Jean-François Avierinos
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundDegenerative mitral regurgitation (DMR) due to mitral valve prolapse (MVP) is a common valve disease associated with significant morbidity and mortality. Timing for surgery is debated for asymptomatic patients without Class I indication, pr
Externí odkaz:
https://doaj.org/article/f1da3abd714f4b0781c6ec7bb57a7e24
Autor:
Lilia Kraoua, Hager Jaouadi, Mohamed Allouche, Ahlem Achour, Hakim Kaouther, Habib Ben Ahmed, Lilia Chaker, Faouzi Maazoul, Fatma Ouarda, Stéphane Zaffran, Ridha M'rad
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. Methods Herein,
Externí odkaz:
https://doaj.org/article/a8ed9491d0fc400688d138cae0ad8928
Publikováno v:
Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic syndrome characterized by life‐threatening arrhythmias, a normal resting electrocardiogram and the absence of overt structural heart abnormalities. Mutations
Externí odkaz:
https://doaj.org/article/52b0fb67e18247eea3e28dc0c4bf7e06
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3365 (2023)
Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation–contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca2+ can cause different t
Externí odkaz:
https://doaj.org/article/734ea0bf78064d50b0b956719a408b20
Autor:
Hager Jaouadi, Alexis Théron, Jérôme Hourdain, Hélène Martel, Karine Nguyen, Raja Habachi, Jean-Claude Deharo, Frédéric Collart, Jean-François Avierinos, Stéphane Zaffran
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 14447 (2022)
Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of life-threatening arrhythmias and sudden cardiac death (SCD), mostly in young adult women. Herein, we repo
Externí odkaz:
https://doaj.org/article/0c83123771134bdeab32f6ec31176466
Autor:
Tui Neri, Emilye Hiriart, Patrick P. van Vliet, Emilie Faure, Russell A. Norris, Batoul Farhat, Bernd Jagla, Julie Lefrancois, Yukiko Sugi, Thomas Moore-Morris, Stéphane Zaffran, Randolph S. Faustino, Alexander C. Zambon, Jean-Pierre Desvignes, David Salgado, Robert A. Levine, Jose Luis de la Pompa, André Terzic, Sylvia M. Evans, Roger Markwald, Michel Pucéat
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
There are few human models that can recapitulate valve development in vitro. Here, the authors derive human pre-valvular endocardial cells (HPVCs) from iPSCs and show they can recapitulate early valvulogenesis, and patient derived HPVCs have features
Externí odkaz:
https://doaj.org/article/e45f606ce5c6400ca0225b4e0d2ad5be