Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Frederique Magdinier"'
Autor:
Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S. Vijayakar, Jingyi Chen, Joel Ng, Ajay S. Mathuru, Frederique Magdinier, Bruno Reversade
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Hox genes are known to control anteroposterior patterning, including the vertebrate spine. Here Xue et al. show that maternal Smchd1 regulates Hox expression in an epigenetic manner, and that wild type offspring from heterozygous mothers show skeleta
Externí odkaz:
https://doaj.org/article/4b6dee71e17346d4bd2f45a200af55bd
Autor:
Diane Frankel, Valérie Delecourt, Elva-María Novoa-del-Toro, Jérôme D. Robin, Coraline Airault, Catherine Bartoli, Aurélie Carabalona, Sophie Perrin, Kilian Mazaleyrat, Annachiara De Sandre-Giovannoli, Frederique Magdinier, Anaïs Baudot, Nicolas Lévy, Elise Kaspi, Patrice Roll
Publikováno v:
iScience, Vol 25, Iss 2, Pp 103757- (2022)
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder, in which an abnormal and toxic protein called progerin, accumulates in cell nuclei, leading to major cellular defects. Among them, chromatin remodeling drives gene expre
Externí odkaz:
https://doaj.org/article/1068381b12894a3784d9ad1250954c43
Publikováno v:
Genes, Vol 12, Iss 7, p 968 (2021)
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,
Externí odkaz:
https://doaj.org/article/6da3ee6e8eda4c2fa6f059cfa0a79326
Autor:
Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2635 (2020)
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recentl
Externí odkaz:
https://doaj.org/article/5b6b3f45c2674a0395380962e0671831
Autor:
Jérôme D. Robin, Frederique Magdinier
Publikováno v:
Frontiers in Genetics, Vol 7 (2016)
Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes, LMNA, LMNB1 and LMNB2. Mutations in the LMNA gene ar
Externí odkaz:
https://doaj.org/article/b137522048ab4425a152259a3adf1d79
Autor:
Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003550 (2013)
Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts. Constitutive inactivation of the protocadherin gene Fat1
Externí odkaz:
https://doaj.org/article/89be6cb32e364b1885a0a8efd206a0f2
Autor:
Doris G. Leung, June Kinoshita, Jamshid Arjomand, Julie Dumonceaux, Russell J Butterfield, Amy E. Campbell, Yi-Wen Chen, Frederique Magdinier, Valeria Sansone, Giorgio Tasca, Yegor Vassetzky, Lindsay M. Wallace
Publikováno v:
The 2022 FSHD International Research Congress
The 2022 FSHD International Research Congress, Jun 2022, ORLANDO, Florida, United States. pp.196-198, ⟨10.1016/j.nmd.2022.12.005⟩
The 2022 FSHD International Research Congress, Jun 2022, ORLANDO, Florida, United States. pp.196-198, ⟨10.1016/j.nmd.2022.12.005⟩
International audience
Autor:
Federica Montagnese, Katy de Valle, Richard J.L.F. Lemmers, Karlien Mul, Julie Dumonceaux, Nicol Voermans, Giorgio Tasca, Maria Gomez-Rodulfo, Sabrina Sacconi, Richard Lemmers, Pilar Camano, Emiliano Giardina, Nienke van der Stoep, Sarah Burton-Jones, Frederique Magdinier, Valerie Race, Sheila Hawkins, Alexandre Mejat, Piraye Oflazer, Lorenzo Guizzaro, Jamshid Arjomand, Yann Pereon, Giulia Ricci, Enrico Bugiardini, Alexandra Belayew
Publikováno v:
Neuromuscular Disorders, 33, 447-462
Neuromuscular Disorders, 33, 5, pp. 447-462
Neuromuscular Disorders, 33, 5, pp. 447-462
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09115dcaa4a5413949563d5406e1316e
http://hdl.handle.net/2066/293214
http://hdl.handle.net/2066/293214
Autor:
Megane Delourme, Chaix Charlene, Laurene Gerard, Benjamin Ganne, Pierre Perrin, Catherine Vovan, Karine Bertaux, Karine Nguyen, Rafaëlle Bernard, Frederique Magdinier
Publikováno v:
Neurology Genetics. 9:e200076
Background and ObjectivesAfter clinical evaluation, the molecular diagnosis of type 1 facioscapulohumeral dystrophy (FSHD1) relies in most laboratories on the detection of a shortened D4Z4 array at the 4q35 locus by Southern blotting. In many instanc
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