ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

by Nadjet Gacem, Anthula Kavo, Lisa Zerad, Laurence Richard, Stephane Mathis, Raj P. Kapur, Melanie Parisot, Jeanne Amiel, Sylvie Dufour, Pierre de la Grange, Veronique Pingault, Jean Michel Vallat, Nadege Bondurand
Published 2020-01-01

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary...

by Nidia Moreno-Corona, Nidia Moreno-Corona, Loïc Chentout, Loïc Chentout, Lucie Poggi, Lucie Poggi, Romane Thouenon, Romane Thouenon, Cecile Masson, Melanie Parisot, Lou Le Mouel, Capucine Picard, Capucine Picard, Capucine Picard, Isabelle André, Isabelle André, Marina Cavazzana, Marina Cavazzana, Laurence Perrin, Anne Durandy, Anne Durandy, Saba Azarnoush, Sven Kracker, Sven Kracker
Published 2021-06-01

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

by Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A. Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau-Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet
Published 2019-09-01

Somatic genetic rescue of a germline ribosome assembly defect

by Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Published 2021-08-01