Essai 11 Octobre 2021

Tania Tahtouh, Emilie Durieu, Benoit Villiers, Celine Bruyere, Thu Lan Nguyen, et al.. Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors. Journal of Medicinal Chemistry, American Chemical Society, 2022, ⟨10.1021/acs.jmedchem.1c01141⟩. ⟨hal-03512536⟩

Jeremie Courraud, Eric Chater-Diehl, Benjamin Durand, Marie Vincent, Maria del Mar Muniz Moreno, et al.. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder. Genetics in Medicine, Nature Publishing Group, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩. ⟨hal-03269307⟩

David Reiss, Hervé Maurin, Emilie Audouard, Miriam Martínez-Navarro, Yaping Xue, et al.. Delta Opioid Receptor in Astrocytes Contributes to Neuropathic Cold Pain and Analgesic Tolerance in Female Mice. Frontiers in Cellular Neuroscience, Frontiers, 2021, 15, ⟨10.3389/fncel.2021.745178⟩. ⟨hal-03433496⟩

Marie-Christine Birling, Atsushi Yoshiki, David Adams, Shinya Ayabe, Arthur Beaudet, et al.. A resource of targeted mutant mouse lines for 5,061 genes. Nature Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41588-021-00825-y⟩. ⟨hal-03065452⟩

Yixing Wu, Heather Whittaker, Suzanna Noy, Karen Cleverley, Veronique Brault, et al.. The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model. PLoS ONE, Public Library of Science, 2021, 16, ⟨10.1371/journal.pone.0242236⟩. ⟨hal-03373441⟩

Arnaud Duchon, Maria del Mar Muniz Moreno, Sandra Martin Lorenzo, Marcia Silva de Souza, Claire Chevalier, et al.. Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models. Human Molecular Genetics, Oxford University Press (OUP), 2021, 30, pp.771 - 788. ⟨10.1093/hmg/ddab012⟩. ⟨hal-03373458⟩

Nicolas Lebrun, Chloé Delépine, Mohamed Selloum, Hamid Meziane, Juliette Nectoux, et al.. HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome. Brain Research, Elsevier, 2021, 1772, pp.147670. ⟨10.1016/j.brainres.2021.147670⟩. ⟨hal-03433491⟩

Manuel Mark, Marius Teletin, Olivia Wendling, Jean-Luc Vonesch, Betty Féret, et al.. Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM. Biomedicines, MDPI, 2021, 9 (7), pp.742. ⟨10.3390/biomedicines9070742⟩. ⟨hal-03357190⟩

Olivia Wendling, Didier Hentsch, Hugues Jacobs, Nicolas Lemercier, Serge Taubert, et al.. High Resolution Episcopic Microscopy for Qualitative and Quantitative Data in Phenotyping Altered Embryos and Adult Mice Using the New “Histo3D” System. Biomedicines, MDPI, 2021, 9 (7), pp.767. ⟨10.3390/biomedicines9070767⟩. ⟨hal-03433478⟩

Sandra Martin Lorenzo, Valérie Nalesso, Claire Chevalier, Marie-Christine Birling, Yann Hérault. Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. Molecular Autism, BioMed Central, 2021, 12 (1), ⟨10.1186/s13229-020-00405-7⟩. ⟨hal-03187247⟩

Nicole Mariani, Alessandra Borsini, Charlotte A.M. Cecil, Janine Felix, Sylvain Sebert, et al.. Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project. PLoS ONE, Public Library of Science, 2021, 16, pp.e0245475. ⟨10.1371/journal.pone.0245475⟩. ⟨hal-03065469⟩

Loic Lindner, Pauline Cayrou, Thomas Rosahl, Heather Zhou, Marie-Christine Birling, et al.. Droplet digital PCR or quantitative PCR for in-depth genomic and functional validation of genetically altered rodents. Methods, Elsevier, 2021, 191, pp.107 - 119. ⟨10.1016/j.ymeth.2021.04.001⟩. ⟨hal-03306827⟩

Yaping Xue, Celeste Chidiac, Yann Herault, Claire Gaveriaux-Ruff. Pain behavior in SCN9A (Nav1.7) and SCN10A (Nav1.8) mutant rodent models. Neuroscience Letters, Elsevier, 2021, 753, pp.135844. ⟨10.1016/j.neulet.2021.135844⟩. ⟨hal-03203444⟩

Véronique Brault, Thu Nguyen, Javier Flores-Gutiérrez, Giovanni Iacono, Marie-Christine Birling, et al.. Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome. PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩. ⟨hal-03373419⟩

Helin Atas-Ozcan, Véronique Brault, Arnaud Duchon, Yann Hérault. Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome. Genes, MDPI, 2021, 12 (11), pp.1833. ⟨10.3390/genes12111833⟩. ⟨hal-03540261⟩

Mara Dierssen, Yann Herault, Pablo Helguera, Maria Martínez de Lagran, Anna Vazquez, et al.. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology, Karger, 2021, 12 (4), pp.202-218. ⟨10.1159/000514437⟩. ⟨hal-03359724⟩

Tomer Illouz, Arya Biragyn, Milana Frenkel-Morgenstern, Orly Weissberg, Alessandro Gorohovski, et al.. Specific Susceptibility to COVID-19 in Adults with Down Syndrome. NeuroMolecular Medicine, Humana Press, 2021, ⟨10.1007/s12017-021-08651-5⟩. ⟨hal-03433463⟩

Tomer Illouz, Arya Biragyn, Maria Iulita, Lisi Flores-Aguilar, Mara Dierssen, et al.. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology, Frontiers, 2021, 12, ⟨10.3389/fimmu.2021.621440⟩. ⟨hal-03285772⟩

Hilke Ehlich, Heather Cater, Ann Flenniken, Isabelle Goncalves da Cruz, Anne-Marie Mura, et al.. INFRAFRONTIER quality principles in systemic phenotyping. Mammalian Genome, Springer Verlag, 2021, ⟨10.1007/s00335-021-09892-2⟩. ⟨hal-03433476⟩

K. Lloyd, David Adams, Gareth Baynam, Arthur Beaudet, Fatima Bosch, et al.. The Deep Genome Project. Genome Biology, BioMed Central, 2020, 21 (1), ⟨10.1186/s13059-020-1931-9⟩. ⟨hal-03065423⟩

Jesus Ruberte, Paul Schofield, Cord Brakebusch, Peter Vogel, Yann Herault, et al.. PATHBIO: an international training program for precision mouse phenotyping. Mammalian Genome, Springer Verlag, 2020, 31 (1-2), pp.49-53. ⟨10.1007/s00335-020-09829-1⟩. ⟨hal-03065414⟩

Lydia Teboul, Yann Herault, Sara Wells, Waseem Qasim, Guillaume Pavlovic. Variability in Genome Editing Outcomes: Challenges for Research Reproducibility and Clinical Safety. Molecular Therapy, Cell Press, 2020, 28 (6), pp.1422-1431. ⟨10.1016/j.ymthe.2020.03.015⟩. ⟨hal-03065520⟩

Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen Murray, Mary Dickinson, Maja Bucan, et al.. Human and mouse essentiality screens as a resource for disease gene discovery. Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩. ⟨hal-03065535⟩

Loic Lindner, Pauline Cayrou, Sylvie Jacquot, Marie-Christine Birling, Yann Herault, et al.. Reliable and robust droplet digital PCR (ddPCR) and RT-ddPCR protocols for mouse studies. Methods, Elsevier, 2020, ⟨10.1016/j.ymeth.2020.07.004⟩. ⟨hal-03065506⟩

Tao Zhang, Pancheng Xie, Yingying Dong, Zhiwei Liu, Fei Zhou, et al.. High-throughput discovery of genetic determinants of circadian misalignment. PLoS Genetics, Public Library of Science, 2020, 16 (1), pp.e1008577. ⟨10.1371/journal.pgen.1008577⟩. ⟨hal-03065538⟩

Johannes Beckers, Raffaele Teperino, Yann Hérault, Martin Hrabé de Angelis. Introduction to Mammalian Genome Special Issue: Epigenetics. Mammalian Genome, Springer Verlag, 2020, 31 (5-6), pp.117-118. ⟨10.1007/s00335-020-09843-3⟩. ⟨hal-03065510⟩

Hamed Haselimashhadi, Jeremy Mason, Violeta Munoz-Fuentes, Federico López-Gómez, Kolawole Babalola, et al.. Soft windowing application to improve analysis of high-throughput phenotyping data. Bioinformatics, Oxford University Press (OUP), 2020, 36 (5), pp.1492-1500. ⟨10.1093/bioinformatics/btz744⟩. ⟨hal-03065532⟩

Renaud Pourpre, Laurent Naudon, Hamid Meziane, Goran Lakisic, Luc Jouneau, et al.. BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice. PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0232789. ⟨10.1371/journal.pone.0232789⟩. ⟨hal-03620717⟩

Renaud Pourpre, Laurent Naudon, Hamid Meziane, Goran Lakisic, Luc Jouneau, et al.. BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice. PLoS ONE, Public Library of Science, 2020, 15 (5), pp.e0232789. ⟨10.1371/journal.pone.0232789⟩. ⟨pasteur-02585985⟩

Anne-Cécile Guyot, Charlotte Leuxe, Clémence Disdier, Nassima Oumata, Narciso Costa, et al.. A Small Compound Targeting Prohibitin with Potential Interest for Cognitive Deficit Rescue in Aging mice and Tau Pathology Treatment. Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.1143. ⟨10.1038/s41598-020-57560-3⟩. ⟨hal-02464292⟩

Karim Zuhra, Theodora Panagaki, Elisa Randi, Fiona Augsburger, Marc Blondel, et al.. Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II). Biochemical Pharmacology, Elsevier, 2020, 182, pp.114267. ⟨10.1016/j.bcp.2020.114267⟩. ⟨hal-03065495⟩

Anna Swan, Christine Schütt, Jan Rozman, Maria del Mar Muñiz Moreno, Stefan Brandmaier, et al.. Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density. PLoS Genetics, Public Library of Science, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩. ⟨hal-03433523⟩

Maxime Sartori, Tiago Mendes, Shruti Desai, Alessia Lasorsa, Adrien Herledan, et al.. BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation. Acta Neuropathologica, Springer Verlag, 2019, 138 (4), pp.631-652. ⟨10.1007/s00401-019-02017-9⟩. ⟨hal-02337166⟩

G Bou About, E Thiebault, M Wattenhofer-Donze, H Jacobs, A Guimond, et al.. Ultrasound-Guided Approaches to Improve Orthotopic Mouse Xenograft Models for Hepatocellular Carcinoma. Current Protocols in Mouse Biology, Wiley Online Library, 2019, 9 (2), ⟨10.1002/cpmo.62⟩. ⟨hal-02379915⟩

Sylvie Jacquot, Nathalie Chartoire, Francoise Piguet, Yann Hérault, Guillaume Pavlovic. Optimizing PCR for Mouse Genotyping: Recommendations for Reliable, Rapid, Cost Effective, Robust and Adaptable to High‐Throughput Genotyping Protocol for Any Type of Mutation. Current Protocols in Mouse Biology, Wiley Online Library, 2019, 9 (4), ⟨10.1002/cpmo.65⟩. ⟨hal-02388398⟩

Giuliana Giannuzzi, Paul Schmidt, Eleonora Porcu, Gilles Willemin, Katherine Munson, et al.. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩. ⟨hal-02388582⟩

Sandra Martin Lorenzo, Hongying Li, Yuqi Qiu, Thomas Arbogast, Sandra Lorenzo, et al.. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports, Elsevier Inc, 2019, 28 (13), pp.3320-3328.e4. ⟨10.1016/j.celrep.2019.08.071⟩. ⟨hal-02388586⟩

Fernando Benavides, Thomas Rülicke, Jan-Bas Prins, James Bussell, Ferdinando Scavizzi, et al.. Genetic quality assurance and genetic monitoring of laboratory mice and rats: FELASA Working Group Report. Laboratory Animals, SAGE Publications, 2019, pp.002367721986771. ⟨10.1177/0023677219867719⟩. ⟨hal-02388587⟩

Maria del Mar Muñ Iz Moreno, Veronique Brault, Yann Hérault, Maria Mar, Muñiz Moreno, et al.. Modeling Down syndrome in animals from the early stage to the 4.0 models and next. Progress in brain research, Elsevier, 2019, ⟨10.1016/bs.pbr.2019.08.001⟩. ⟨hal-02378243⟩

Alan Beggs, Gisèle Bonne, Carsten Bönnemann, Sandra Donkervoort, James Dowling, et al.. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015. Neuromuscular Disorders, Elsevier, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩. ⟨hal-02388590⟩

Benoit Souchet, Arnaud Duchon, Yuchen Gu, Julien Dairou, Claire Chevalier, et al.. Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models. Scientific Reports, Nature Publishing Group, 2019, 9, pp.3914. ⟨10.1038/s41598-019-40328-9⟩. ⟨hal-02066761⟩

Damien Marechal, Véronique Brault, Alice Leon, Dehren Martin, Patricia Pereira, et al.. Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a. Human Molecular Genetics, Oxford University Press (OUP), 2019, 00, pp.1 - 17. ⟨10.1093/hmg/ddy447⟩. ⟨hal-02376400⟩

Elena Sügis, Jerome Dauvillier, Anna Leontjeva, Priit Adler, Valérie Hindie, et al.. HENA, heterogeneous network-based data set for Alzheimer’s disease. Scientific Data , Nature Publishing Group, 2019, 6 (1), pp.151. ⟨10.1038/s41597-019-0152-0⟩. ⟨hal-02388589⟩

Arnaud Duchon, Agnès Gruart, Christelle Albac, Benoît Delatour, Javier Zorrilla de San Martin, et al.. Long‐lasting correction of in vivo LTP and cognitive deficits of mice modelling Down syndrome with an α5‐selective GABAA inverse agonist. British Journal of Pharmacology, Wiley, 2019, ⟨10.1111/bph.14903⟩. ⟨hal-02388584⟩

Ekaterina Ivanova, Johan Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, et al.. TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis. Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩. ⟨hal-02388602⟩

Valentina Lionello, Anne-Sophie Nicot, Maxime Sartori, Christine Kretz, Pascal Kessler, et al.. Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice. Science Translational Medicine, American Association for the Advancement of Science (AAAS), 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩. ⟨hal-02388606⟩

Marianne Aincy, Hamid Meziane, Yann Herault, Yann Humeau. Synaptic dysfunction in amygdala in intellectual disorder models. Progress in Neuro-Psychopharmacology and Biological Psychiatry, Elsevier, 2018, 84, pp.392-397. ⟨10.1016/j.pnpbp.2017.07.028⟩. ⟨hal-03065430⟩

Victor Faundez, Ilario De Toma, Barbara Bardoni, Renata Bartesaghi, Dean Nizetic, et al.. Translating Molecular Advances in Down Syndrome and Fragile X Syndrome Into Therapies. European Neuropsychopharmacology, Elsevier, 2018. ⟨hal-02388397⟩

Bret Moore, Michel Roux, Lionel Sebbag, Ann Cooper, Sydney Edwards, et al.. A Population Study of Common Ocular Abnormalities in C57BL/6N rd8 Mice. Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2018, 59 (6), pp.2252. ⟨10.1167/iovs.17-23513⟩. ⟨hal-02361529⟩

Bret Moore, Brian Leonard, Lionel Sebbag, Sydney Edwards, Ann Cooper, et al.. Identification of genes required for eye development by high-throughput screening of mouse knockouts. Communications Biology, Nature Publishing Group, 2018, 1 (1), ⟨10.1038/s42003-018-0226-0⟩. ⟨hal-02342264⟩

G. Iacono, A. Dubos, H. Meziane, M. Benevento, E. Habibi, et al.. Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. Nucleic Acids Research, Oxford University Press, 2018, ⟨10.1093/nar/gky196⟩. ⟨hal-02187058⟩

Thu Lan Nguyen, Arnaud Duchon, Antigoni Manousopoulou, Nadège Loaëc, Benoît Villiers, et al.. Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A. Disease Models & Mechanisms, Cambridge Company of Biologists, 2018, 11 (9), pp.dmm035634. ⟨10.1242/dmm.035634⟩. ⟨hal-01862465⟩

D. Ung, G Iacono, H Méziane, E. Blanchard, M-A Papon, et al.. Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse. Molecular Psychiatry, Nature Publishing Group, 2018, 23 (5), pp.1356-1367. ⟨10.1038/mp.2017.39⟩. ⟨inserm-02443532⟩

Simon Haziza, Nitin Mohan, Yann Loe-Mie, Aude-Marie Lepagnol-Bestel, Sophie Massou, et al.. Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors. Nature Nanotechnology, Nature Publishing Group, 2017, 12 (4), pp.322-328. ⟨10.1038/nnano.2016.260⟩. ⟨pasteur-02873510⟩

T.L. Nguyen, Corinne Fruit, Y. Hérault, L. Meijer, Thierry Besson. Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors: a survey of recent patent literature. Expert Opinion on Therapeutic Patents, Informa Healthcare, 2017, 27 (11), pp.1183-1199. ⟨10.1080/13543776.2017.1360285⟩. ⟨hal-02046302⟩

Yann Herault, Jean M. Delabar, Elizabeth M. C. Fisher, Victor L. J. Tybulewicz, Eugene Yu, et al.. Rodent models in Down syndrome research: impact and future opportunities. Disease Models & Mechanisms, Cambridge Company of Biologists, 2017, 23 (3), pp.578-589. ⟨10.1242/dmm.029728⟩. ⟨hal-01626762⟩

Meghna Kannan, Efil Bayam, Christel Wagner, Bruno Rinaldi, Perrine Kretz, et al.. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩. ⟨hal-02378716⟩

Miguel Garcia-Gonzalez, Claire Carette, Alessia Bagattin, Magali Chiral, Parla Makinistoglu, et al.. A suppressor locus for MODY3-diabetes. Scientific Reports, Nature Publishing Group, 2016, 6, pp.33087. ⟨10.1038/srep33087⟩. ⟨inserm-01472157⟩

Thomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, Maksym Kopanitsa, Nurudeen Afinowi, et al.. Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. PLoS Genetics, Public Library of Science, 2016, 12 (2), pp.e1005709. ⟨10.1371/journal.pgen.1005709⟩. ⟨inserm-02164433⟩

Roy Combe, John Mudgett, Lahcen El Fertak, Marie-France Champy Methlin, Estelle Ayme-Dietrich, et al.. How Does Circadian Rhythm Impact Salt Sensitivity of Blood Pressure in Mice? A Study in Two Close C57Bl/6 Substrains. PLoS ONE, Public Library of Science, 2016, 11 (4), pp.e0153472. ⟨10.1371/journal.pone.0153472⟩. ⟨hal-03445368⟩

Xiaodong Yang, John Mudgett, Ghina Bou About, Marie-France Champy Methlin, Hugues Jacobs, et al.. Physiological Expression of AMPKγ2 Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2016, 291 (45), pp.23428-23439. ⟨10.1074/jbc.M116.738591⟩. ⟨hal-03445359⟩

Perrine Goguet-Rubio, Berfin Seyran, Laurie Gayte, Florence Bernex, Anne Sutter, et al.. E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2016, 113 (39), pp.11004-11009. ⟨10.1073/pnas.1602751113⟩. ⟨inserm-02465232⟩

Hamid Meziane, Malik Khelfaoui, Noemi Morello, Bassem Hiba, Eleonora Calcagno, et al.. Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (11), pp.2314-2323. ⟨10.1093/hmg/ddw102⟩. ⟨hal-02404671⟩

Joan Barau, Aurélie Teissandier, Natasha Zamudio, Stéphanie Roy, Valérie Nalesso, et al.. The DNA methyltransferase DNMT3C protects male germ cells from transposon activity. Science, American Association for the Advancement of Science (AAAS), 2016, 354 (6314), pp.909-912. ⟨10.1126/science.aah5143⟩. ⟨hal-01595412⟩

Veronique Brault, Arnaud Duchon, Caroline Romestaing, Ignasi Sahún, Stéphanie Pothion, et al.. Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region. PLoS Genetics, Public Library of Science, 2015, 11 : e1005062. ((3)), pp.1-27. ⟨10.1371/journal.pgen.1005062⟩. ⟨hal-01323519⟩

Benoit Souchet, Fayçal Guedj, Zsuza Penke-Verdier, Fabrice Daubigney, Arnaud Duchon, et al.. Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models. Frontiers in Behavioral Neuroscience, Frontiers, 2015, 9, pp.267. ⟨10.3389/fnbeh.2015.00267⟩. ⟨hal-01263753⟩

Julie Clar, Blandine Gri, Julien Calderaro, Marie-Christine Birling, Yann Herault, et al.. Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.. Kidney International, Nature Publishing Group, 2014, 86 (4), pp.747-756. ⟨10.1038/ki.2014.102⟩. ⟨inserm-01350891⟩

François Mouton-Liger, Ignasi Sahún, Thibault Collin, Patricia Lopes Pereira, Debora Masini, et al.. Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome.. Neurobiology of Disease, Elsevier, 2014, 63, pp.92-106. ⟨hal-01179506⟩

S. MÊme, N. Joudiou, N. Yousfi, F. Szeremeta, P. Lopes-Pereira, et al.. In vivo 9.4T MRI and 1H MRS for Evaluation of Brain Structural and Metabolic Changes in the Ts65Dn Mouse Model for Down Syndrome.. World Journal of Neuroscience, Scientific Research Publishing, 2014, 04 (02), pp.152-163. ⟨10.4236/wjns.2014.42018⟩. ⟨hal-01179464⟩

Michelle Simon, Simon Greenaway, Jacqueline White, Helmut Fuchs, Valérie Gailus-Durner, et al.. A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.. Genome Biology, BioMed Central, 2013, 14 (7), pp.R82. ⟨10.1186/gb-2013-14-7-r82⟩. ⟨inserm-00874969⟩

Matthieu Raveau, Jacques Lignon, Valérie Nalesso, Arnaud Duchon, Yoram Groner, et al.. The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model. PLoS Genetics, Public Library of Science, 2012, 8 (5), pp.e1002724. ⟨10.1371/journal.pgen.1002724⟩. ⟨hal-03359718⟩

Jérôme Braudeau, B. Delatour, Arnaud Duchon, Philippe Lopes Pereira, Luce Dauphinot, et al.. Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice.. Journal of Psychopharmacology, SAGE Publications, 2011, 25 (8), pp.1030-42. ⟨10.1177/0269881111405366⟩. ⟨hal-00634143⟩

J. Braudeau, L. Dauphinot, A. Duchon, A. Loistron, R. H. Dodd, et al.. Chronic Treatment with a Promnesiant GABA-A α5-Selective Inverse Agonist Increases Immediate Early Genes Expression during Memory Processing in Mice and Rectifies Their Expression Levels in a Down Syndrome Mouse Model.. Adv Pharmacol Sci, 2011, 2011, pp.e-153218. ⟨10.1155/2011/153218⟩. ⟨hal-00764914⟩

Benjamin K. Dickerman, Christine L. White, Claire Chevalier, Valerie Nalesso, Cyril Charles, et al.. Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development. PLoS ONE, Public Library of Science, 2011, 6 (12), pp.e28537. ⟨10.1371/journal.pone.0028537⟩. ⟨hal-01129622⟩

M. Malissen, V. Vallet-Erdtmann, Florian Jean Louis Guillou, Y. Hérault, J. Ewbank, et al.. Les modèles animaux en recherche biomédicale. Biofutur, Elsevier - Cachan : Lavoisier, 2010, pp.34-38. ⟨hal-01129411⟩

Julien Laffaire, Isabelle Rivals, Luce Dauphinot, Fabien Pasteau, Rosine Wehrle, et al.. Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.. BMC Genomics, BioMed Central, 2009, 10 (138), pp.138. ⟨10.1186/1471-2164-10-138⟩. ⟨hal-00804586⟩

Anna Grochot-Przeczek, Radoslaw Lach, Jacek Mis, Klaudia Skrzypek, Malgorzata Gozdecka, et al.. Heme oxygenase-1 accelerates cutaneous wound healing in mice.. PLoS ONE, Public Library of Science, 2009, 4 (6), pp.e5803. ⟨10.1371/journal.pone.0005803⟩. ⟨hal-00408274⟩

Randal X Moldrich, Luce Dauphinot, Julien Laffaire, Tania Vitalis, Yann Hérault, et al.. Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres.. Journal of Neuroscience Research, Wiley, 2009, 87 (14), pp.3143-3152 ⟨10.1002/jnr.22131⟩. ⟨hal-00408277⟩

Mara Dierssen, Yann Herault, Xavier Estivill. Aneuploidy: from a physiological mechanism of variance to down syndrome.. Physiological Reviews, American Physiological Society, 2009, 89 (3), pp.887-920. ⟨10.1152/physrev.00032.2007⟩. ⟨hal-00408268⟩

Olivier Cocquempot, Veronique Brault, Charles Babinet, Yann Herault. Fork Stalling and Template Switching (FOSTES) as a Mechanism for Poly-Alanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly.. Genetics, Genetics Society of America, 2009, 183 (1), epub ahead of print. ⟨10.1534/genetics.109.104695⟩. ⟨hal-00408270⟩

A. Duchon, V. Besson, P.L. Pereira, Laetitia Magnol, Y. Herault. Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.. Genetics, Genetics Society of America, 2008, 180, pp.51-59. ⟨10.1534/j.genetics.108.092312⟩. ⟨hal-01211840⟩

Arnaud Duchon, Vanessa Besson, Patricia Lopes Pereira, Laetitia Magnol, Yann Hérault. Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.. Genetics, Genetics Society of America, 2008, 180 (1), pp.51-9. ⟨10.1534/genetics.108.092312⟩. ⟨hal-00408291⟩

Vanessa Besson, Véronique Brault, Arnaud Duchon, Dieudonnée Togbe, Jean-Charles Bizot, et al.. Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.. Human Molecular Genetics, Oxford University Press (OUP), 2007, 16 (17), pp.2040-52. ⟨10.1093/hmg/ddm152⟩. ⟨hal-00408331⟩

V. Brault, V. Besson, L. Magnol, A. Duchon, Y. Hérault. Cre/loxP-mediated chromosome engineering of the mouse genome.. Handb Exp Pharmacol, Vsevolod Gurevich, 2007, pp.29-48. ⟨10.1007/978-3-540-35109-2_2⟩. ⟨hal-00408334⟩

Laetitia Magnol, Marie-Clémence Chevallier, Valérie Nalesso, Stéphanie Retif, Helmut Fuchs, et al.. KIT is required for hepatic function during mouse post-natal development.. BMC Developmental Biology, BioMed Central, 2007, 7 (81), pp.81. ⟨10.1186/1471-213X-7-81⟩. ⟨hal-00408328⟩

Lei Mao, Claus Zabel, Marion Herrmann, Tobias Nolden, Florian Mertes, et al.. Proteomic shifts in embryonic stem cells with gene dose modifications suggest the presence of balancer proteins in protein regulatory networks.. PLoS ONE, Public Library of Science, 2007, 2 (11), pp.e1218. ⟨10.1371/journal.pone.0001218⟩. ⟨hal-00408296⟩

Véronique Brault, Patricia Pereira, Arnaud Duchon, Yann Hérault. Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.. PLoS Genetics, Public Library of Science, 2006, 2 (7), pp.e86. ⟨10.1371/journal.pgen.0020086⟩. ⟨hal-00408337⟩

V. Brault, P. Pereira, A. Duchon, Y. Hérault. Modeling chromosomes in mouse to explore the function of genes, genomic disorders and chromosomal organisation. PLoS Genetics, Public Library of Science, 2006, in press, in press. ⟨hal-00096002⟩

V. Besson, V. Nalesso, A. Herpin, Bizot J.-C., N. Messaddeq, et al.. Training and aging modulate the loss-of balance phenotype observed in a new ENU-induced allele of Otopetrin1. Biology of the Cell, Wiley, 2005, 97, pp.787-98. ⟨hal-00094541⟩

Vanessa Besson, Valérie Nalesso, Alexandre Herpin, Jean-Charles Bizot, Nadia Messaddeq, et al.. Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1.. Biology of the Cell, Wiley, 2005, 97 (10), pp.787-98. ⟨10.1042/BC20040525⟩. ⟨hal-00187441⟩

P. Brown, Sdm Chambon, M. Hrabe de Angelis, V. Braulty, Y. Herault. EMPReSS: standardised phenotype screens for functional annotation of the mouse genome. Nature Genetics, Nature Publishing Group, 2005, 37, pp.1755. ⟨hal-00094570⟩

K.R. Fitch, K.A. Mcgowan, C.D. van Raamsdonk, H. Fuchs, A. Puech, et al.. Genetics of dark skin in mice. Genes and Development, Cold Spring Harbor Laboratory Press, 2003, 17, pp.214-228. ⟨hal-00095121⟩

Y. Hérault, M. Kmita, Shawaya Cc, D. Duboule. A nested deletion approach to generate CRE deleter mice with progressive Hox profiles. International Journal of Developmental Biology, University of the Basque Country Press, 2003, 46, pp.186-191. ⟨hal-00095162⟩

M. Kmita, B. Tarchini, D. Duboule, Y. Hérault. Evolutionnary conserved sequences are required for the insulation of the vertebrate HoxD complex in neural cells. Development (Cambridge, England), Company of Biologists, 2003, 129, pp.5521-5528. ⟨hal-00095165⟩

M. Kmita, N. Fradeau, Y. Hérault, D. Duboule. Serial deletions and duplications suggests a mechanism for the collinearity of Hoxd genes in limbs. Nature, Nature Publishing Group, 2003, 420, pp.145-150. ⟨hal-00095170⟩

G. Gillet, D. Michel, P. Crisanti, M. Guerin, Y. Herault, et al.. Serum factors and v-src control two complementary mitogenic pathways in quail neuroretinal cells in culture.. Oncogene, Nature Publishing Group, 1993, 8, pp.565-574. ⟨hal-00314337⟩

Binnaz Yalcin, Meghna Kannan, Christel Wagner, Marna Roos, Bruno Rinaldi, et al.. WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy. 51st European Society of Human Genetics (ESHG) Conference, May 2017, Milano, Italy. pp.111. ⟨hal-02378786⟩

Joan Barau, Aurélie Teissandier, Natasha Zamudio, Stéphanie Roy, Valerie Nalesso, et al.. Identification d'une nouvelle ADN méthyltransférase « DNMT3C » qui protège les cellules germinales mâles de l'activité des transposons. 3. Journée de Séminaires du Département Phase sur l'Epigénétique EpiPhase, May 2017, Jouy-en-Josas, France. ⟨hal-01603099⟩

Guillaume Pavlovic, Pascale Mercier, Valérie Risson, Philippe Schmitt, Marie-Christine Birling, et al.. The questions you should ask yourself for efficient CRISPR/Cas9 genome editing. 13. Transgenic technology meeting, Mar 2016, Prague, Czech Republic. ⟨hal-02743699⟩

Sophie Fouchécourt, E. Desale, V. Nalesso, Betty Fumel, P. Lopes Pereira, et al.. Characterization of new genomic regions involved in male reproduction by ENU-mediated chemical mutagenesis strategy. 16. European Testis Workshop on Molecular and Cellular Endocrinology, May 2010, Ile d'Elbe, Italy. n.p. ⟨hal-02815234⟩

Ahmad Almhdie, Patricia Lopes-Pereira, Sandra Même, Caroline Colombier, Veronique Brault, et al.. Chan-Vese based method to segment mouse brain MRI images: application to cerebral malformation analysis in trisomy 21. Eusipco 2009, Aug 2009, Glasgow, United Kingdom. ⟨hal-00608092⟩

Patricia Lopes-Pereira, Ahmad Almhdie, Paulo Loureiro de Sousa, Bich-Thuy Doan, Sandra Même, et al.. MEMRI for the morphological and functional study of mouse brain: application to the Down syndrome. 17th Scientific Meeting & Exhibition, Apr 2009, Honolulu, United States. ⟨hal-00608083⟩

Aude-Marie Lepagnol-Bestel, Simon Haziza, Julia Viard, Paul Salin, Valérie Crépel, et al.. DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation. 2019, ⟨10.1101/645200⟩. ⟨hal-03060184⟩

Véronique Brault, Thu Lan Nguyen, Javier Flores-Gutiérrez, Giovanni Iacono, Marie-Christine Birling, et al.. Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome. 2021. ⟨hal-03221060⟩

Arnaud Duchon, Maria del Mar Muñiz Moreno, Sandra Martin Lorenzo, Márcia Priscilla Silva de Souza, Claire Chevalier, et al.. Multi-influential interactions alters behaviour and cognition through six main biological cascades in Down syndrome mouse models. 2021. ⟨hal-03091174⟩

Andréa Geoffroy, Karima Habbas, Boglarka Zambo, Laetitia Schramm, Arnaud Duchon, et al.. Pioglitazone improves deficits of Fmr1-KO mouse model of Fragile X syndrome by interfering with excessive diacylglycerol signaling. 2020. ⟨hal-03028259⟩

Aude-Marie Lepagnol-Bestel, Simon Haziza, Julia Viard, Paul Salin, Valérie Crépel, et al.. DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation. 2020. ⟨hal-03065466⟩

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, et al.. Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease. 2020. ⟨hal-03065473⟩

R Daudin, D Marechal, Q Wang, Y Abe, N Bourg, et al.. BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments. 2020. ⟨hal-03065480⟩

Sandra Martin Lorenzo, Valérie Nalesso, Claire Chevalier, Marie-Christine Birling, Yann Herault. Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. 2020. ⟨hal-03065440⟩

Yixing Wu, Heather Whittaker, Suzanna Noy, Karen Cleverley, Veronique Brault, et al.. The effects of CSTB duplication on APP/amyloid-β pathology and cathepsin activity in a mouse model. 2020. ⟨hal-03075349⟩