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2024

International refereed journal articles

31 - 

Invertebrate Immunity, Natural Transplantation Immunity, Somatic and Germ Cell Parasitism, and Transposon Defense

Malgorzata Kloc, Marta Halasa, Jacek Z. Kubiak, Rafik M. Ghobrial

International Journal of Molecular Sciences, 2024, 25 (2), pp.1072.

DOI : https://doi.org/10.3390/ijms25021072

Pubmed : 38256145

 

32 - 

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

Johannes Kopp, Leonard A. Koch, Hristiana Lyubenova, Oliver Kuechler, Manuel Holtgrewe, Andranik Ivanov, Christèle Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Melanie Fradin, Uwe Kornak, Bjoern Fischer-Zirnsak et al.

Human Genetics, 2024,

DOI : https://doi.org/10.1007/s00439-024-02669-y

Pubmed : 38592547

 

33 - 

DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Alinoë Lavillaureix, Paul Rollier, Artem Kim, Veranika Panasenkava, Marie de Tayrac, Wilfrid Carré, Helene Guyodo, Marie Faoucher, Elisabeth Poirel, Linda Akloul, Chloé Quélin, Sandra Whalen, Jessica Bos, Marjoleine Broekema, Johanna M. van Hagen et al.

Genetics in Medicine, 2024, pp.101126.

DOI : https://doi.org/10.1016/j.gim.2024.101126

Pubmed : 38529886

 

34 - 

Fully in vitro iterative construction of a 24 kb-long artificial DNA sequence to store digital information

Julien Leblanc, Olivier Boulle, Emeline Roux, Jacques Nicolas, Dominique Lavenier, Yann Audic

Biotechniques, 2024, 76 (5), pp.203-215.

DOI : https://doi.org/10.2144/btn-2023-0109

Pubmed : 38573592

 

35 - 

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization

Vittoria Mariano, Alexandros K Kanellopoulos, C Ricci, Daniele Di Marino, Sarah C Borrie, Sebastian Dupraz, Frank Bradke, Tilmann Achsel, Eric Legius, Sylvie Odent, Pierre Billuart, Thierry Bienvenu, Claudia Bagni

Biological Psychiatry, 2024, 95 (2), pp.161-174.

DOI : https://doi.org/10.1016/j.biopsych.2023.08.027

Pubmed : 37704042

 

36 - 

Assembly, dynamics and remodeling of epithelial cell junctions throughout development

Marta Mira-Osuna, Roland Le Borgne

Development (Cambridge, England), 2024, Development (cambridge, England), 151 (1),

DOI : https://doi.org/10.1242/dev.201086

Pubmed : 38205947

 

37 - 

The recruitment of ACF1 and SMARCA5 to DNA lesions relies on ADP-ribosylation dependent chromatin unfolding

Eva Pinto Jurado, Rebecca Smith, Nicolas Bigot, Catherine Chapuis, Gyula Timinszky, Sébastien Huet

Molecular Biology of the Cell, 2024, 35 (3), pp.mbcE23070281.

DOI : https://doi.org/10.1091/mbc.E23-07-0281

Pubmed : 38170578

 

38 - 

Structural and functional diversity of type IV secretion systems

Tiago R D Costa, Jonasz B Patkowski, Kévin Macé, Peter J. Christie, Gabriel Waksman

Nature Reviews Microbiology, 2024, 22 (3), pp.170-185.

DOI : https://doi.org/10.1038/s41579-023-00974-3

Pubmed : 37814112

 

39 - 

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-Fenzy et al.

Journal of Medical Genetics, 2024, 61 (1), pp.47-56.

DOI : https://doi.org/10.1136/jmg-2023-109263

Pubmed : 37495270

 

40 - 

p110α-dependent hepatocyte signaling is critical for liver gene expression and its rewiring in MASLD

Marion Régnier, Arnaud Polizzi, Tiffany Fougeray, Anne Fougerat, Prunelle Perrier, Karen Anderson, Yannick Lippi, Smati Sarra, Céline Lukowicz, Frédéric Lasserre, Edwin Fouche, Marine Huillet, Clémence Rives, Blandine Tramunt, Claire Naylies et al.

BioRxiv, 2024,

DOI : https://doi.org/10.1101/2024.01.09.574858