Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Frédérique Magdinier"'
Autor:
Julien Van Gils, Slim Karkar, Aurélien Barre, Seyta Ley-Ngardigal, Sophie Nothof, Stéphane Claverol, Caroline Tokarski, Jean-Philippe Trani, Raphael Chevalier, Natacha Broucqsault, Claire El Yazidi, Didier Lacombe, Patricia Fergelot, Frédérique Magdinier
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-15 (2024)
Abstract Rubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to cause RTS encode transcriptional coactiv
Externí odkaz:
https://doaj.org/article/5ca15b01bb7840f3b1cb9bd06d1fa239
Autor:
Maria Sol Jacome Burbano, Jérôme D. Robin, Serge Bauwens, Marjorie Martin, Emma Donati, Lucia Martínez, Peipei Lin, Sabrina Sacconi, Frédérique Magdinier, Eric Gilson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-11 (2023)
Abstract Telomeric repeat binding factor 2 (TRF2) binds to telomeres and protects chromosome ends against the DNA damage response and senescence. Although the expression of TRF2 is downregulated upon cellular senescence and in various aging tissues,
Externí odkaz:
https://doaj.org/article/d600b22df10d459d9d7664b5a9e0f266
Autor:
Camille Laberthonnière, Elva‐Maria Novoa‐del‐Toro, Mégane Delourme, Raphaël Chevalier, Natacha Broucqsault, Kilian Mazaleyrat, Nathalie Streichenberger, Véronique Manel, Rafaëlle Bernard, Emmanuelle Salort Campana, Shahram Attarian, Karine Nguyen, Jérôme D. Robin, Anais Baudot, Frédérique Magdinier
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)
Abstract Background Facioscapulohumeral dystrophy (FSHD) is a late‐onset autosomal dominant form of muscular dystrophy involving specific groups of muscles with variable weakness that precedes inflammatory response, fat infiltration, and muscle atr
Externí odkaz:
https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563
Autor:
Laetitia Dard, Christophe Hubert, Pauline Esteves, Wendy Blanchard, Ghina Bou About, Lyla Baldasseroni, Elodie Dumon, Chloe Angelini, Mégane Delourme, Véronique Guyonnet-Dupérat, Stéphane Claverol, Laura Fontenille, Karima Kissa, Pierre-Emmanuel Séguéla, Jean-Benoît Thambo, Lévy Nicolas, Yann Herault, Nadège Bellance, Nivea Dias Amoedo, Frédérique Magdinier, Tania Sorg, Didier Lacombe, Rodrigue Rossignol
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 8 (2022)
Germline mutations that activate genes in the canonical RAS/MAPK signaling pathway are responsible for rare human developmental disorders known as RASopathies. Here, we analyzed the molecular determinants of Costello syndrome (CS) using a mouse model
Externí odkaz:
https://doaj.org/article/efecf1351ff2484ba90767b2754d4938
Autor:
Frédérique Magdinier
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 18, Iss , Pp 100328- (2022)
Externí odkaz:
https://doaj.org/article/efcd5feb69ae4fdbbe12f07ff3593e99
Autor:
María del Carmen Ortuño-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Inés García-Consuegra, Camille Laberthonnière, Mégane Delourme, Rafael Garesse, Joaquín Arenas, Carla Fuster García, Gema García García, José María Millán, Frédérique Magdinier, María Esther Gallardo
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13964 (2022)
McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene. This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disord
Externí odkaz:
https://doaj.org/article/01480cb12c914ad5a69edeff24e3fe15
Autor:
Elva María Novoa-Del-Toro, Efrén Mezura-Montes, Matthieu Vignes, Morgane Térézol, Frédérique Magdinier, Laurent Tichit, Anaïs Baudot
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 8, p e1009263 (2021)
The identification of subnetworks of interest-or active modules-by integrating biological networks with molecular profiles is a key resource to inform on the processes perturbed in different cellular conditions. We here propose MOGAMUN, a Multi-Objec
Externí odkaz:
https://doaj.org/article/c6d3a18612264ec793ee179ae807abcd
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11439 (2022)
microRNAs (miRNAs) are small single strand non-coding RNAs and powerful gene expression regulators. They mainly bind to the 3′UTR sequence of targeted mRNA, leading to their degradation or translation inhibition. miR-140 gene encodes the pre-miR-14
Externí odkaz:
https://doaj.org/article/152e158f40fc441c9cd370f5b86db34d
Autor:
Camille Laberthonnière, Elva Maria Novoa-del-Toro, Raphaël Chevalier, Natacha Broucqsault, Vanitha Venkoba Rao, Jean Philippe Trani, Karine Nguyen, Shifeng Xue, Bruno Reversade, Jérôme D. Robin, Anais Baudot, Frédérique Magdinier
Publikováno v:
Biomedicines, Vol 9, Iss 7, p 751 (2021)
Over the recent years, the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain Containing 1) chromatin-associated factor has triggered increasing interest after the identification of variants in three rare and unrelated diseases, type
Externí odkaz:
https://doaj.org/article/a79f48bb80374f30b99138b221ba7b8e
Autor:
Stéphanie Simoncini, Anne-Line Chateau, Stéphane Robert, Dilyana Todorova, Catherine Yzydorzick, Romaric Lacroix, Isabelle Ligi, Laurence Louis, Richard Bachelier, Umberto Simeoni, Frédérique Magdinier, Françoise Dignat-George, Florence Sabatier
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Senescent cells may exert detrimental effect on microenvironment through the secretion of soluble factors and the release of extracellular vesicles, such as microparticles, key actors in ageing and cardiovascular diseases. We previously repo
Externí odkaz:
https://doaj.org/article/4c107dc93a564daf8a97cf91c02ff34f