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Your search keyword '"Cedric Le Caignec"' showing total 2 results
Start Over Author "Cedric Le Caignec" Journal nature communications
2 results on '"Cedric Le Caignec"'

1. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Author

Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, and Grant S. Stewart

Subjects
Science
Abstract

The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.

Published
2022
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2. Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

Author

Stéphanie Kilens, Dimitri Meistermann, Diego Moreno, Caroline Chariau, Anne Gaignerie, Arnaud Reignier, Yohann Lelièvre, Miguel Casanova, Céline Vallot, Steven Nedellec, Léa Flippe, Julie Firmin, Juan Song, Eric Charpentier, Jenna Lammers, Audrey Donnart, Nadège Marec, Wallid Deb, Audrey Bihouée, Cédric Le Caignec, Claire Pecqueur, Richard Redon, Paul Barrière, Jérémie Bourdon, Vincent Pasque, Magali Soumillon, Tarjei S. Mikkelsen, Claire Rougeulle, Thomas Fréour, Laurent David, and The Milieu Intérieur Consortium

Subjects
Science
Abstract

Derivation of human induced pluripotent stem cells (hiPSCs) produces primed hiPSCs that can in turn be converted to naive hiPSCs. Here, the authors directly reprogram somatic cells to form both naive and primed isogenic hiPSCs and confirm the similarity of naive hiPSCs to their in vivo counterparts.

Published
2018
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