Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Johan G. Gilet"'
Autor:
Ekaterina L. Ivanova, Johan G. Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Karen Runge, Stephan C. Collins, Laure Asselin, Loic Broix, Nathalie Drouot, Peggy Tilly, Patrick Nusbaum, Alexandre Vincent, William Magnant, Valerie Skory, Marie-Christine Birling, Guillaume Pavlovic, Juliette D. Godin, Binnaz Yalcin, Yann Hérault, Pavel Dráber, Jamel Chelly, Maria-Victoria Hinckelmann
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
New mutations and genes associated with malformations of cortical development keep being identified, yet there is little known about the underlying cellular mechanisms controlling these impairments. Here, authors generate and characterize a heterozyg
Externí odkaz:
https://doaj.org/article/70b73ea35c47483e83ff67156a41b716
Autor:
Maria Osipenko, Hamid Meziane, Binnaz Yalcin, Gabrielle Rudolf, John S. Allingham, Ekaterina L. Ivanova, Maria-Victoria Hinckelmann, Loic Broix, Johan G. Gilet, Valerie Skory, Benjamin H. Kwok, Marie-Christine Birling, Jérémie Courraud, Daria Trofimova, Nathalie Drouot, Jamel Chelly, Nadia Bahi-Buisson, Paul Voulleminot
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2020, 29 (5), pp.766-784. ⟨10.1093/hmg/ddz316⟩
Human Molecular Genetics, Oxford University Press (OUP), 2020, 29 (5), pp.766-784. ⟨10.1093/hmg/ddz316⟩
Hum Mol Genet
Human Molecular Genetics, 2020, 29 (5), pp.766-784. ⟨10.1093/hmg/ddz316⟩
Human Molecular Genetics, Oxford University Press (OUP), 2020, 29 (5), pp.766-784. ⟨10.1093/hmg/ddz316⟩
Hum Mol Genet
By using the Cre-mediated genetic switch technology, we were able to successfully generate a conditional knock-in mouse, bearing the KIF2A p.His321Asp missense point variant, identified in a subject with malformations of cortical development. These m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de9467df1fdd7aa1a2aebafc72ab0e8
https://www.hal.inserm.fr/inserm-02551504/file/ddz316.pdf
https://www.hal.inserm.fr/inserm-02551504/file/ddz316.pdf
Autor:
Nathalie Drouot, Patrick Nusbaum, William Magnant, Binnaz Yalcin, Arnaud Duchon, Loic Broix, Jamel Chelly, Valerie Skory, Stephan C. Collins, Maria-Victoria Hinckelmann, Vadym Sulimenko, Yann Herault, Marie-Christine Birling, Juliette D. Godin, Guillaume Pavlovic, Pavel Dráber, Karen Runge, Laure Asselin, Ekaterina L. Ivanova, Gabrielle Rudolf, Peggy Tilly, Alexandre Vincent, Johan G. Gilet
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-10081-8⟩
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Nature Communications, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), ⟨10.1038/s41467-019-10081-8⟩
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Nature Communications, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩
De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. Here, we investigated through in-utero electroporation and in-vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7593bcb4ef7889f22fe4f4a6a5b20310
https://hal.archives-ouvertes.fr/hal-02388602
https://hal.archives-ouvertes.fr/hal-02388602
Autor:
Peggy Tilly, Carla Gomes Da Silva, Yoann Saillour, Maria-Victoria Hinckelmann, Hélène Jagline, Jamel Chelly, Giuseppe Muraca, Alexandre Benmerah, Johan G. Gilet, Nadia Bahi-Buisson, Nicolas Lebrun, Ekaterina L. Ivanova, Nathalie Drouot, Madeline Louise Reilly, Laure Asselin, Fiona Francis, Laurent Nguyen, Loic Broix, Juliette D. Godin, Richard Belvindrah
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
Human Molecular Genetics, 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
Human Molecular Genetics, 2018, 27 (2), pp.224-238. ⟨10.1093/hmg/ddx384⟩
International audience; Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. Though KIF2A is known as member of the K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a241c92bae6697ce64e804bbcd3b728
https://hal.archives-ouvertes.fr/hal-03373834
https://hal.archives-ouvertes.fr/hal-03373834