Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Florian Sandron"'
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:
Zuzana Gerber, Christian Daviaud, Damien Delafoy, Florian Sandron, Enagnon Kazali Alidjinou, Jonathan Mercier, Sylvain Gerber, Vincent Meyer, Anne Boland, Laurence Bocket, Robert Olaso, Jean-François Deleuze
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract The COVID-19 pandemic caused by the new Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) continues to threaten public health and burden healthcare systems worldwide. Whole SARS-CoV-2 genome sequencing has become essential for epi
Externí odkaz:
https://doaj.org/article/8b5aedb1bc8e41ecb7691b34be1e3fe5
Autor:
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8729 (2023)
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants
Externí odkaz:
https://doaj.org/article/2b873905703741e9b297d16106f54ccc
Autor:
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurologi
Externí odkaz:
https://doaj.org/article/84cd90f8c2f147a682d5ff88f7111dd9
Autor:
Elena Gargaun, Sestina Falcone, Guilhem Solé, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean François Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Publikováno v:
Biomedicines, Vol 9, Iss 2, p 219 (2021)
In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers f
Externí odkaz:
https://doaj.org/article/968c00f1b0d148c5bfa7adb3b5474094
Autor:
Eric Bonnet, Marie-Laure Moutet, Céline Baulard, Delphine Bacq-Daian, Florian Sandron, Lilia Mesrob, Bertrand Fin, Marc Delépine, Marie-Ange Palomares, Claire Jubin, Hélène Blanché, Vincent Meyer, Anne Boland, Robert Olaso, Jean-François Deleuze
Publikováno v:
PLoS ONE, Vol 13, Iss 4, p e0195471 (2018)
Next-generation sequencing (NGS) studies are becoming routinely used for the detection of novel and clinically actionable DNA variants at a pangenomic scale. Such analyses are now used in the clinical practice to enable precision medicine. Formalin-f
Externí odkaz:
https://doaj.org/article/1796e14e9dad40adabb02cde5a59516c
Autor:
Fabienne Gas, Jean Charles Gaillard, Florian Sandron, Robert Olaso, Fabrice Gallais, Hélène Batina, Zuzana Gerber, Stéphanie Debroas, Jean Armengaud, Lucia Grenga, Laurent Bellanger, Jean-François Deleuze, Sylvie Ruat, Damien Delafoy, Olivier Pible
Publikováno v:
Analytical and Bioanalytical Chemistry
Graphical abstract COVID-19 is the most disturbing pandemic of the past hundred years. Its causative agent, the SARS-CoV-2 virus, has been the subject of an unprecedented investigation to characterize its molecular structure and intimate functioning.
Autor:
Anne Boland, Thomas Mejean, Elise Larsonneur, Nicolas Wiart, Stephane Meslage, Jonathan Mercier, Damien Delafoy, Florian Sandron, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Delphine Daian
BackgroundInterest in genomic medicine for human health studies and clinical applications is rapidly increasing. Clinical applications require contamination-free samples to avoid misleading results and provide a sound basis for diagnosis.ResultsHere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c29cf3c733a699a12b36fb146f2d532
https://doi.org/10.1101/2021.10.01.461647
https://doi.org/10.1101/2021.10.01.461647
Autor:
Sophie Scheidecker, Elke Krüger, Vincent Laugel, Masanari Takamiya, Jean Muller, Jean-François Deleuze, Steven McGinn, Dan Lipsker, Elise Schaefer, Fouzia Studer, Koichi Kawakami, Philippe Hammann, Valérie Pelletier, Barbara A. Zieba, Séverine Bär, Anne Boland, Christelle Etard, Frédéric Ebstein, Sylvie Friant, Corinne Stoetzel, Johana Chicher, Ariane Kröll-Hermi, Lauriane Kuhn, Florian Sandron, Uwe Strähle, Hélène Dollfus, Véronique Geoffroy, Claude Speeg-Schatz
Whole-genome sequencing was performed on patients with severe deafness and early-onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome. A unique deep intronic homozygous variant in thePSMC3gene (c.1127+337A>G, p.Ser376Argf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1299d52081534a49d9d0525a41c729ce
Autor:
Marc Delepine, Lilia Mesrob, Marie-Ange Palomares, Hélène Blanché, Claire Jubin, Bertrand Fin, Anne Boland, Delphine Bacq-Daian, Eric Bonnet, Vincent Meyer, Marie-Laure Moutet, Céline Baulard, Robert Olaso, Jean-François Deleuze, Florian Sandron
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 4, p e0195471 (2018)
PLoS ONE, Vol 13, Iss 4, p e0195471 (2018)
Next-generation sequencing (NGS) studies are becoming routinely used for the detection of novel and clinically actionable DNA variants at a pangenomic scale. Such analyses are now used in the clinical practice to enable precision medicine. Formalin-f