Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Paul Kuentz"'
Autor:
Laurence Perrin, Silvia Cappello, Francesco Neri, Arthur Sorlin, Philippe Khau Van Kien, Ludovico D'Incerti, Françoise Devillard, Rossella Di Giaimo, Paul Kuentz, Agnès Loubat, Marjolaine Willems, Laurence Faivre, Frédéric Tran Mau-Them, Salvatore Oliviero, Michèle Studer, Anna Lisa Romano, Christophe Philippe, Michele Bertacchi, Carolina Frassoni, Aurore Garde
Publikováno v:
The EMBO Journal
EMBO Journal
EMBO Journal, EMBO Press, 2020, 39 (13), pp.e104163. ⟨10.15252/embj.2019104163⟩
EMBO Journal
EMBO Journal, EMBO Press, 2020, 39 (13), pp.e104163. ⟨10.15252/embj.2019104163⟩
The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these processes, are not fully elucidated to date. In this study, we report six novel cases of pa
Autor:
V. Carmignac, Yannis Duffourd, Geneviève Bernard, Bénédicte Demeer, Didier Bessis, Christel Thauvin, Bernard Devauchelle, Odile Boute, Philippine Garret, Arthur Sorlin, Esther Carmi, Julien Thevenon, Veronica A. Kinsler, Arnaud Lafon, Alain Bron, S.S. Kholmanskikh, Catherine Gondry-Jouet, William B. Dobyns, Guillaume Captier, Paul Kuentz, Pierre Vabres, Jean Benoît Courcet, Laurent Guibaud, David Geneviève, Jean Baptiste Rivière, Satyamaanasa Polubothu, Francesca Faravelli, Judith St-Onge, Laurence Faivre, M. Elizabeth Ross, Michèle Mathieu-Dramard
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, Nature Publishing Group, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Nature Genetics, 2019, 51 (11), pp.1660-1660. ⟨10.1038/s41588-019-0527-3⟩
Published Erratum: Correction to: Nature Genetics 51: 1438–1441 https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019.In the version of this article initially published, authors Bénédicte Demeer and Bernard Devauchelle wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ccf4d91539d4b9785cff25c5dce97b
https://hal.archives-ouvertes.fr/hal-02423646
https://hal.archives-ouvertes.fr/hal-02423646
Autor:
Geoffroy Delplancq, Eleonora Di Gregorio, Giovanni Battista Ferrero, Alfredo Brusco, Diana Carli, Paul Kuentz, Slavica Trajkova, Lisa Pavinato
Publikováno v:
Brain Sciences
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exosto
Autor:
M. Elizabeth Ross, Philippine Garret, Jean Benoît Courcet, Guillaume Captier, Francesca Faravelli, Michèle Mathieu-Dramard, Veronica A. Kinsler, Bernard Devauchelle, Bénédicte Demeer, David Geneviève, S.S. Kholmanskikh, Odile Boute, Christel Thauvin, Satyamaanasa Polubothu, Paul Kuentz, Julien Thevenon, Esther Carmi, Arnaud Lafon, William B. Dobyns, Yannis Duffourd, Geneviève Bernard, Judith St-Onge, Laurence Faivre, Jean Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Catherine Gondry-Jouet, Alain Bron, Didier Bessis, V. Carmignac, Laurent Guibaud
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩
Nature genetics
Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hyp
Autor:
Paul Kuentz, Magali Avila, Jean Baptiste Rivière, Pierre Vabres, Marietta Zinner, Julien Thevenon, Judith St-Onge, David Geneviève, Eveline S. J. M. de Bont, Florian Villegas, Floor A. M. Duijkers, Mieke M. van Haelst, Laurence Duplomb-Jego, Sébastien A. Smallwood, Silvana van Koningsbruggen, Daniel Olivieri, Nada Houcinat, Yannis Duffourd, Thibaud Jouan, Christel Thauvin-Robinet, Koen L.I. van Gassen, Daphné Lehalle, Melanie Rittirsch, Michael B. Stadler, Laurence Faivre, Daniel Hess, Klaske D. Lichtenbelt, Joerg Betschinger, Daniela Mayer
Publikováno v:
Cell Stem Cell
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
International audience; Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased