Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Autor: Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of

Externí odkaz: https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Autor: Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)

Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternat

Externí odkaz: https://doaj.org/article/72afc8d9128643c28fcf74d35cc00642

Mitotic chromosome condensation resets chromatin to maintain transcriptional homeostasis

Autor: Lucía Ramos-Alonso, Petter Holland, Stéphanie Le Gras, Xu Zhao, Bernard Jost, Magnar Bjørås, Yves Barral, Jorrit M. Enserink, Pierre Chymkowitch

Mitotic entry correlates with the condensation of the chromosomes, remodeling of histone modifications, exclusion of transcription factors from DNA and the broad downregulation of transcription. However, whether mitotic condensation influences transc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d90297df035ea57b95a63a528697b2d2
https://doi.org/10.1101/2022.05.11.491439

Genome-Wide Mapping of Collier In Vivo Binding Sites Highlights Its Hierarchical Position in Different Transcription Regulatory Networks.

Autor: Mathilde de Taffin, Yannick Carrier, Laurence Dubois, Laetitia Bataillé, Anaïs Painset, Stéphanie Le Gras, Bernard Jost, Michèle Crozatier, Alain Vincent

Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0133387 (2015)

Collier, the single Drosophila COE (Collier/EBF/Olf-1) transcription factor, is required in several developmental processes, including head patterning and specification of muscle and neuron identity during embryogenesis. To identify direct Collier (C

Externí odkaz: https://doaj.org/article/0f63bf2acbc247de99f0b228ec4a504c

CD4 + T cells require Ikaros to inhibit their differentiation towards a pathogenic cell fate

Autor: Manuela Wissler, Patricia Marchal, Ulrich Maurer, Tao Ye, Bernard Jost, Gaëtan Maurer, Chiara Bernardi, Céline Charvet, Susan Chan, Philippe Kastner

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2021, 118 (17), pp.e2023172118. ⟨10.1073/pnas.2023172118⟩
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118 (17), pp.e2023172118. ⟨10.1073/pnas.2023172118⟩

International audience; The production of proinflammatory cytokines, particularly granulocyte-macrophage colony-stimulating factor (GM-CSF), by pathogenic CD4+ T cells is central for mediating tissue injury in inflammatory and autoimmune diseases. Ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0462bee86965d7aaa5fe9e05514bcc8
https://hal-cnrs.archives-ouvertes.fr/hal-03362243/document