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Yann Herault




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Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data

Maria del Mar Muniz Moreno , Claire Gaveriaux-Ruff , Yann Hérault
BMC Bioinformatics, 2023, 24 (1), pp.28. ⟨10.1186/s12859-022-05111-0⟩
Journal articles hal-04219165v1
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Timeline of Developmental Defects Generated upon Genetic Inhibition of the Retinoic Acid Receptor Signaling Pathway

Marius Teletin , Manuel Mark , Olivia Wendling , Nadège Vernet , Betty Féret
Biomedicines, 2023, 11 (1), ⟨10.3390/biomedicines11010198⟩
Journal articles hal-04021094v1
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Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease

Julia Viard , Yann Loe-Mie , Rachel Daudin , Malik Khelfaoui , Christine Plancon
Life Science Alliance, 2022, 5 (12), ⟨10.26508/lsa.202101205⟩
Journal articles hal-04219180v1
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INFRAFRONTIER quality principles in systemic phenotyping

Hilke Ehlich , Heather Cater , Ann Flenniken , Isabelle Goncalves da Cruz , Anne-Marie Mura
Mammalian Genome, 2022, 33 (1), pp.120-122. ⟨10.1007/s00335-021-09892-2⟩
Journal articles hal-03433476v1
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Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

Arnaud Duchon , Maria del Mar Muñiz Moreno , Claire Chevalier , Valérie Nalesso , Philippe Andre
Disease Models & Mechanisms, 2022, 15 (12), pp.dmm049721. ⟨10.1242/dmm.049721⟩
Journal articles hal-03891136v1
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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

Hamid Meziane , Marie-Christine Birling , Olivia Wendling , Sophie Leblanc , Aline Dubos
Biomedicines, 2022, 10 (12), ⟨10.3390/biomedicines10123148⟩
Journal articles hal-04219164v1
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The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice

Yaping Xue , Mélanie Kremer , Maria del Mar Muniz Moreno , Celeste Chidiac , Romain Lorentz
Frontiers in Molecular Neuroscience, 2022, 15, pp.913990. ⟨10.3389/fnmol.2022.913990⟩
Journal articles hal-03844438v1

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Giuliana Giannuzzi , Nicolas Chatron , Katrin Mannik , Chiara Auwerx , Sylvain Pradervand
npj Genomic Medicine, 2022, 7 (1), pp.38. ⟨10.1038/s41525-022-00308-x⟩
Journal articles hal-03862012v1
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Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Kendall Higgins , Bret A. Moore , Zorana Berberovic , Hibret A. Adissu , Mohammad Eskandarian
Scientific Reports, 2022, 12 (1), ⟨10.1038/s41598-022-19710-7⟩
Journal articles hal-04217630v1

Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors

Tania Tahtouh , Emilie Durieu , Benoit Villiers , Celine Bruyere , Thu Lan Nguyen
Journal of Medicinal Chemistry, 2022, 65 (2), pp.1396-1417. ⟨10.1021/acs.jmedchem.1c01141⟩
Journal articles hal-03512536v1

Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society

Mara Dierssen , Yann Herault , Pablo Helguera , Maria Martínez de Lagran , Anna Vazquez
Molecular Syndromology, 2021, 12 (4), pp.202-218. ⟨10.1159/000514437⟩
Journal articles hal-03359724v1
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Pain behavior in SCN9A (Nav1.7) and SCN10A (Nav1.8) mutant rodent models

Yaping Xue , Celeste Chidiac , Yann Herault , Claire Gaveriaux-Ruff
Neuroscience Letters, 2021, 753, pp.135844. ⟨10.1016/j.neulet.2021.135844⟩
Journal articles hal-03203444v1
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Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project

Nicole Mariani , Alessandra Borsini , Charlotte A.M. Cecil , Janine Felix , Sylvain Sebert
PLoS ONE, 2021, 16, pp.e0245475. ⟨10.1371/journal.pone.0245475⟩
Journal articles hal-03065469v1
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The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity

Céleste Chidiac , Yaping Xue , Maria del Mar Muniz Moreno , Ameer Abu Bakr Rasheed , Romain Lorentz
Frontiers in Pharmacology, 2021, 12, pp.780132. ⟨10.3389/fphar.2021.780132⟩
Journal articles hal-03706653v1
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno
Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Journal articles hal-03269307v1

HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome

Nicolas Lebrun , Chloé Delépine , Mohamed Selloum , Hamid Meziane , Juliette Nectoux
Brain Research, 2021, 1772, pp.147670. ⟨10.1016/j.brainres.2021.147670⟩
Journal articles hal-03433491v1

Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome

Helin Atas-Ozcan , Véronique Brault , Arnaud Duchon , Yann Hérault
Genes, 2021, 12 (11), pp.1833. ⟨10.3390/genes12111833⟩
Journal articles hal-03540261v1
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Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM

Manuel Mark , Marius Teletin , Olivia Wendling , Jean-Luc Vonesch , Betty Féret
Biomedicines, 2021, 9 (7), pp.742. ⟨10.3390/biomedicines9070742⟩
Journal articles hal-03357190v1
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A resource of targeted mutant mouse lines for 5,061 genes

Marie-Christine Birling , Atsushi Yoshiki , David Adams , Shinya Ayabe , Arthur Beaudet
Nature Genetics, 2021, ⟨10.1038/s41588-021-00825-y⟩
Journal articles hal-03065452v1
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The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model

Yixing Wu , Heather T Whittaker , Suzanna Noy , Karen Cleverley , Veronique Brault
Journal articles hal-03373441v1
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Droplet digital PCR or quantitative PCR for in-depth genomic and functional validation of genetically altered rodents

Loic Lindner , Pauline Cayrou , Thomas W Rosahl , Heather H Zhou , Marie-Christine Birling
Methods, 2021, 191, pp.107 - 119. ⟨10.1016/j.ymeth.2021.04.001⟩
Journal articles hal-03306827v1
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Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Tomer Illouz , Arya Biragyn , Maria Florencia Iulita , Lisi Flores-Aguilar , Mara Dierssen
Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.621440⟩
Journal articles hal-03285772v1
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High Resolution Episcopic Microscopy for Qualitative and Quantitative Data in Phenotyping Altered Embryos and Adult Mice Using the New “Histo3D” System

Olivia Wendling , Didier Hentsch , Hugues Jacobs , Nicolas Lemercier , Serge Taubert
Biomedicines, 2021, 9 (7), pp.767. ⟨10.3390/biomedicines9070767⟩
Journal articles hal-03433478v1
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Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Véronique Brault , Thu Lan Nguyen , Javier Flores-Gutiérrez , Giovanni Iacono , Marie-Christine Birling
PLoS Genetics, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩
Journal articles hal-03373419v1
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Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models

Arnaud Duchon , Maria del Mar Muniz Moreno , Sandra Martin Lorenzo , Marcia Priscilla Silva de Souza , Claire Chevalier
Human Molecular Genetics, 2021, 30, pp.771 - 788. ⟨10.1093/hmg/ddab012⟩
Journal articles hal-03373458v1
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Specific Susceptibility to COVID-19 in Adults with Down Syndrome

Tomer Illouz , Arya Biragyn , Milana Frenkel-Morgenstern , Orly Weissberg , Alessandro Gorohovski
NeuroMolecular Medicine, 2021, 23 (4), pp.561-571. ⟨10.1007/s12017-021-08651-5⟩
Journal articles hal-03433463v1
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Delta Opioid Receptor in Astrocytes Contributes to Neuropathic Cold Pain and Analgesic Tolerance in Female Mice

David Reiss , Hervé Maurin , Emilie Audouard , Miriam Martínez-Navarro , Yaping Xue
Frontiers in Cellular Neuroscience, 2021, 15, pp.745178. ⟨10.3389/fncel.2021.745178⟩
Journal articles hal-03433496v1
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Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models

Sandra Martin Lorenzo , Valérie Nalesso , Claire Chevalier , Marie-Christine Birling , Yann Hérault
Molecular Autism, 2021, 12 (1), ⟨10.1186/s13229-020-00405-7⟩
Journal articles hal-03187247v1
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Introduction to Mammalian Genome Special Issue: Epigenetics

Johannes Beckers , Raffaele Teperino , Yann Hérault , Martin Hrabé de Angelis
Mammalian Genome, 2020, 31 (5-6), pp.117-118. ⟨10.1007/s00335-020-09843-3⟩
Journal articles hal-03065510v1
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Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro , Violeta Muñoz-Fuentes , Stephen Murray , Mary Dickinson , Maja Bucan
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩
Journal articles hal-03065535v1
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PATHBIO: an international training program for precision mouse phenotyping

Jesus Ruberte , Paul Schofield , Cord Brakebusch , Peter Vogel , Yann Herault
Mammalian Genome, 2020, 31 (1-2), pp.49-53. ⟨10.1007/s00335-020-09829-1⟩
Journal articles hal-03065414v1

A Small Compound Targeting Prohibitin with Potential Interest for Cognitive Deficit Rescue in Aging mice and Tau Pathology Treatment

Anne-Cécile Guyot , Charlotte Leuxe , Clémence Disdier , Nassima Oumata , Narciso Costa
Scientific Reports, 2020, 10 (1), pp.1143. ⟨10.1038/s41598-020-57560-3⟩
Journal articles hal-02464292v1
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Soft windowing application to improve analysis of high-throughput phenotyping data

Hamed Haselimashhadi , Jeremy Mason , Violeta Munoz-Fuentes , Federico López-Gómez , Kolawole Babalola
Bioinformatics, 2020, 36 (5), pp.1492-1500. ⟨10.1093/bioinformatics/btz744⟩
Journal articles hal-03065532v1
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Variability in Genome Editing Outcomes: Challenges for Research Reproducibility and Clinical Safety

Lydia Teboul , Yann Herault , Sara Wells , Waseem Qasim , Guillaume Pavlovic
Molecular Therapy, 2020, 28 (6), pp.1422-1431. ⟨10.1016/j.ymthe.2020.03.015⟩
Journal articles hal-03065520v1
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The Deep Genome Project

K. C Kent Lloyd , David Adams , Gareth Baynam , Arthur L. Beaudet , Fatima Bosch
Genome Biology, 2020, 21 (1), ⟨10.1186/s13059-020-1931-9⟩
Journal articles hal-03065423v1
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High-throughput discovery of genetic determinants of circadian misalignment

Tao Zhang , Pancheng Xie , Yingying Dong , Zhiwei Liu , Fei Zhou
PLoS Genetics, 2020, 16 (1), pp.e1008577. ⟨10.1371/journal.pgen.1008577⟩
Journal articles hal-03065538v1
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Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II)

Karim Zuhra , Theodora Panagaki , Elisa Randi , Fiona Augsburger , Marc Blondel
Biochemical Pharmacology, 2020, 182, pp.114267. ⟨10.1016/j.bcp.2020.114267⟩
Journal articles hal-03065495v1
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

Anna Swan , Christine Schütt , Jan Rozman , Maria del Mar Muñiz Moreno , Stefan Brandmaier
PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
Journal articles hal-03433523v1
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BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice

Renaud Pourpre , Laurent Naudon , Hamid Meziane , Goran Lakisic , Luc Jouneau
PLoS ONE, 2020, 15 (5), pp.e0232789. ⟨10.1371/journal.pone.0232789⟩
Journal articles pasteur-02585985v1

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

Giuliana Giannuzzi , Paul Schmidt , Eleonora Porcu , Gilles Willemin , Katherine Munson
American Journal of Human Genetics, 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩
Journal articles hal-02388582v1

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

Maxime Sartori , Tiago P. Mendes , Shruti Desai , Alessia Lasorsa , Adrien Herledan
Acta Neuropathologica, 2019, 138 (4), pp.631-652. ⟨10.1007/s00401-019-02017-9⟩
Journal articles hal-02337166v1
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Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models

Benoit Souchet , Arnaud Duchon , Yuchen Gu , Julien Dairou , Claire Chevalier
Scientific Reports, 2019, 9, pp.3914. ⟨10.1038/s41598-019-40328-9⟩
Journal articles hal-02066761v1

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Valentina Lionello , Anne-Sophie Nicot , Maxime Sartori , Christine Kretz , Pascal Kessler
Science Translational Medicine, 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩
Journal articles hal-02388606v1
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Long‐lasting correction of in vivo LTP and cognitive deficits of mice modelling Down syndrome with an α5‐selective GABAA inverse agonist

Arnaud Duchon , Agnès Gruart , Christelle Albac , Benoît Delatour , Javier Zorrilla de San Martin
British Journal of Pharmacology, 2019, ⟨10.1111/bph.14903⟩
Journal articles hal-02388584v1

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

Alan H. Beggs , Gisèle Bonne , Carsten Bönnemann , Sandra Donkervoort , James J. Dowling
Neuromuscular Disorders, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩
Journal articles hal-02388590v1
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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

Ekaterina Ivanova , Johan Gilet , Vadym Sulimenko , Arnaud Duchon , Gabrielle Rudolf
Nature Communications, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩
Journal articles hal-02388602v1

Genetic quality assurance and genetic monitoring of laboratory mice and rats: FELASA Working Group Report

Fernando Benavides , Thomas Rülicke , Jan-Bas Prins , James Bussell , Ferdinando Scavizzi
Laboratory Animals, 2019, pp.002367721986771. ⟨10.1177/0023677219867719⟩
Journal articles hal-02388587v1
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HENA, heterogeneous network-based data set for Alzheimer’s disease

Elena Sügis , Jerome Dauvillier , Anna Leontjeva , Priit Adler , Valérie Hindie
Scientific Data , 2019, 6 (1), pp.151. ⟨10.1038/s41597-019-0152-0⟩
Journal articles hal-02388589v1
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Modeling Down syndrome in animals from the early stage to the 4.0 models and next

Maria del Mar Muñ Iz Moreno , Veronique Brault , Yann Hérault , Maria Del Mar , Muñiz Moreno
Progress in brain research, 2019, ⟨10.1016/bs.pbr.2019.08.001⟩
Journal articles hal-02378243v1
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Ultrasound-Guided Approaches to Improve Orthotopic Mouse Xenograft Models for Hepatocellular Carcinoma

G Bou About , E Thiebault , M Wattenhofer-Donze , H Jacobs , A Guimond
Current Protocols in Mouse Biology, 2019, 9 (2), ⟨10.1002/cpmo.62⟩
Journal articles hal-02379915v1

Optimizing PCR for Mouse Genotyping: Recommendations for Reliable, Rapid, Cost Effective, Robust and Adaptable to High‐Throughput Genotyping Protocol for Any Type of Mutation

Sylvie Jacquot , Nathalie Chartoire , Francoise Piguet , Yann Hérault , Guillaume Pavlovic
Current Protocols in Mouse Biology, 2019, 9 (4), ⟨10.1002/cpmo.65⟩
Journal articles hal-02388398v1
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Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a

Damien Marechal , Véronique Brault , Alice Leon , Dehren Martin , Patricia Pereira
Human Molecular Genetics, 2019, 00, pp.1 - 17. ⟨10.1093/hmg/ddy447⟩
Journal articles hal-02376400v1

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Sandra Martin Lorenzo , Hongying Li , Yuqi Qiu , Thomas Arbogast , Sandra Martin Lorenzo
Cell Reports, 2019, 28 (13), pp.3320-3328.e4. ⟨10.1016/j.celrep.2019.08.071⟩
Journal articles hal-02388586v1
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Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A

Thu Lan Nguyen , Arnaud Duchon , Antigoni Manousopoulou , Nadège Loaëc , Benoît Villiers
Disease Models & Mechanisms, 2018, 11 (9), pp.dmm035634. ⟨10.1242/dmm.035634⟩
Journal articles hal-01862465v1

Synaptic dysfunction in amygdala in intellectual disorder models

Marianne Aincy , Hamid Meziane , Yann Herault , Yann Humeau
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2018, 84, pp.392-397. ⟨10.1016/j.pnpbp.2017.07.028⟩
Journal articles hal-03065430v1
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Identification of genetic elements in metabolism by high-throughput mouse phenotyping

Jan Rozman , Birgit Rathkolb , Manuela Oestereicher , Chrsitine Schutt , Akash Chavan Ravindranath
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-017-01995-2⟩
Journal articles hal-03670945v1

Hepatocyte SHP deficiency protects mice from acetaminophen-evoked liver injury in a JNK-signaling regulation and GADD45beta-dependent manner

Yong-Hoon Kim , Jung-Ran Noh , Jung Hwan Hwang , Kyoung-Shim Kim , Dong-Hee Choi
Archives of Toxicology, 2018, 92 (8), pp.2563-2572. ⟨10.1007/s00204-018-2247-3⟩
Journal articles hal-03670947v1
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Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

G. Iacono , A. Dubos , H. Meziane , M. Benevento , E. Habibi
Nucleic Acids Research, 2018, 46 (10), pp.4950-4965. ⟨10.1093/nar/gky196⟩
Journal articles hal-02187058v1
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A Population Study of Common Ocular Abnormalities in C57BL/6N rd8 Mice

Bret A Moore , Michel Roux , Lionel Sebbag , Ann Cooper , Sydney G Edwards
Investigative Ophthalmology & Visual Science, 2018, 59 (6), pp.2252. ⟨10.1167/iovs.17-23513⟩
Journal articles hal-02361529v1

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations

Aline Dubos , Hamid Meziane , Giovanni Iacono , Aurore Curie , Fabrice Riet
Human Molecular Genetics, 2018, 27 (12), pp.2138-2153. ⟨10.1093/hmg/ddy122⟩
Journal articles hal-03664342v1
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Identification of genes required for eye development by high-throughput screening of mouse knockouts

Bret A Moore , Brian Leonard , Lionel Sebbag , Sydney Edwards , Ann Cooper
Communications Biology, 2018, 1 (1), ⟨10.1038/s42003-018-0226-0⟩
Journal articles hal-02342264v1

Translating Molecular Advances in Down Syndrome and Fragile X Syndrome Into Therapies

Victor Faundez , Ilario De Toma , Barbara Bardoni , Renata Bartesaghi , Dean Nizetic
European Neuropsychopharmacology, 2018
Journal articles hal-02388397v1
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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

D. Ung , G Iacono , H Méziane , E. Blanchard , M-A Papon
Molecular Psychiatry, 2018, 23 (5), pp.1356-1367. ⟨10.1038/mp.2017.39⟩
Journal articles inserm-02443532v1

Nox4 genetic inhibition in experimental hypertension and metabolic syndrome

Ghina Bouabout , Estelle Ayme-Dietrich , Hugues Jacobs , Marie-France Champy Methlin , Marie-Christine Birling
Archives of cardiovascular diseases, 2017, 111 (1), pp.41-52. ⟨10.1016/j.acvd.2017.03.011⟩
Journal articles hal-03671917v1

Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE

Marie-Christine Birling , Laurence Schaeffer , Philippe Andre , Loic Lindner , Damien Marechal
Scientific Reports, 2017, 7, ⟨10.1038/srep43331⟩
Journal articles hal-03677785v1
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Prevalence of sexual dimorphism in mammalian phenotypic traits

Natasha Karp , Jeremy Mason , Arthur Beaudet , Yoav Benjamini , Lynette Bower
Nature Communications, 2017, 8, ⟨10.1038/ncomms15475⟩
Journal articles hal-03679179v1

Modeling human disease in rodents by CRISPR/Cas9 genome editing

Marie-Christine Birling , Yann Herault , Guillaume Pavlovic
Mammalian Genome, 2017, 28, pp.291-301. ⟨10.1007/s00335-017-9703-x⟩
Journal articles hal-03679167v1

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

Meghna Kannan , Efil Bayam , Christel Wagner , Bruno Rinaldi , Perrine Kretz
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩
Journal articles hal-02378716v1
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Rodent models in Down syndrome research: impact and future opportunities

Yann Herault , Jean M. Delabar , Elizabeth M. C. Fisher , Victor L. J. Tybulewicz , Eugene Yu
Disease Models & Mechanisms, 2017, 23 (3), pp.578-589. ⟨10.1242/dmm.029728⟩
Journal articles hal-01626762v1
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Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors

Simon Haziza , Nitin Mohan , Yann Loe-Mie , Aude-Marie Lepagnol-Bestel , Sophie Massou
Nature Nanotechnology, 2017, 12 (4), pp.322-328. ⟨10.1038/nnano.2016.260⟩
Journal articles pasteur-02873510v1

Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies

Olivia Wendling , Marie-France Champy Methlin , Solène Jaubert , Guillaume Pavlovic , Aline Dubos
Scientific Reports, 2017, 7 (1), ⟨10.1038/s41598-017-08845-7⟩
Journal articles hal-03676411v1

Introduction to Mammalian Genome Special Issue: Genome Editing

Lydia Teboul , Yann Herault , Cynthia Smith , Bruce Whitelaw
Mammalian Genome, 2017, 28 (7-8), pp.235-236. ⟨10.1007/s00335-017-9708-5⟩
Journal articles hal-03677832v1
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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

Thomas Arbogast , G Iacono , C Chevalier , N Afinowi , X Houbaert
PLoS Genetics, 2017, 13 (7), ⟨10.1371/journal.pgen.1006886⟩
Journal articles hal-03679164v1

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

Terrence Meehan , Nathalie Conte , David West , Julius Jacobsen , Jeremy Mason
Nature Genetics, 2017, 49 (8), pp.1231-1238. ⟨10.1038/ng.3901⟩
Journal articles hal-03691170v1

Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus

Giovanni Iacono , Marco Benevento , Aline Dubos , Yann Herault , Hans van Bokhoven
Scientific Reports, 2017, 7 (1), ⟨10.1038/s41598-017-18287-w⟩
Journal articles hal-03677796v1
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A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Michael Bowl , Michelle Simon , Neil Ingham , Simon Greenaway , Luis Santos
Nature Communications, 2017, 8 (1), ⟨10.1038/s41467-017-00595-4⟩
Journal articles hal-03676410v1

A Fast, Easy, and Customizable Eight-Color Flow Cytometric Method for Analysis of the Cellular Content of Bronchoalveolar Lavage Fluid in the Mouse

Francois Daubeuf , Julien Becker , Juan Aguilar-Pimentel , Claudine Ebel , Martin Hrabě de Angelis
Current Protocols in Mouse Biology, 2017, 7 (2), pp.88-99. ⟨10.1002/cpmo.26⟩
Journal articles hal-03676433v1

Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors: a survey of recent patent literature

T.L. Nguyen , Corinne Fruit , Y. Hérault , L. Meijer , Thierry Besson
Expert Opinion on Therapeutic Patents, 2017, 27 (11), pp.1183-1199. ⟨10.1080/13543776.2017.1360285⟩
Journal articles hal-02046302v1

The DNA methyltransferase DNMT3C protects male germ cells from transposon activity

Joan Barau , Aurélie Teissandier , Natasha Zamudio , Stéphanie Roy , Valérie Nalesso
Science, 2016, 354 (6314), pp.909-912. ⟨10.1126/science.aah5143⟩
Journal articles hal-01595412v1

DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome

Arnaud Duchon , Yann Herault
Frontiers in Behavioral Neuroscience, 2016, 10, ⟨10.3389/fnbeh.2016.00104⟩
Journal articles hal-03680484v1
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Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

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Physiological Expression of AMPKγ2 Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice

Xiaodong Yang , John Mudgett , Ghina Bou About , Marie-France Champy Methlin , Hugues Jacobs
Journal of Biological Chemistry, 2016, 291 (45), pp.23428-23439. ⟨10.1074/jbc.M116.738591⟩
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E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis

Perrine Goguet-Rubio , Berfin Seyran , Laurie Gayte , Florence F. Bernex , Anne Sutter
Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (39), pp.11004-11009. ⟨10.1073/pnas.1602751113⟩
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A suppressor locus for MODY3-diabetes

Miguel A Garcia-Gonzalez , Claire Carette , Alessia A Bagattin , Magali Chiral , Parla Makinistoglu
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How Does Circadian Rhythm Impact Salt Sensitivity of Blood Pressure in Mice? A Study in Two Close C57Bl/6 Substrains

Roy Combe , John Mudgett , Lahcen El Fertak , Marie-France Champy Methlin , Estelle Ayme-Dietrich
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Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

Hamid Meziane , Malik Khelfaoui , Noemi Morello , Bassem Hiba , Eleonora Calcagno
Human Molecular Genetics, 2016, 25 (11), pp.2314-2323. ⟨10.1093/hmg/ddw102⟩
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Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes

C Delepine , Hamid Meziane , J Nectoux , M Opitz , A Smith
Human Molecular Genetics, 2016, 25 (1), pp.146-157. ⟨10.1093/hmg/ddv464⟩
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Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

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Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models

Benoit Souchet , Fayçal Guedj , Zsuza Penke-Verdier , Fabrice Daubigney , Arnaud Duchon
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Neurobiology of Disease, 2014, 63, pp.92-106
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Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.

Julie Clar , Blandine Gri , Julien Calderaro , Marie-Christine Birling , Yann Herault
Kidney International, 2014, 86 (4), pp.747-756. ⟨10.1038/ki.2014.102⟩
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In vivo 9.4T MRI and 1H MRS for Evaluation of Brain Structural and Metabolic Changes in the Ts65Dn Mouse Model for Down Syndrome.

S. Même , N. Joudiou , N. Yousfi , F. Szeremeta , P. Lopes-Pereira
World Journal of Neuroscience, 2014, 04 (02), pp.152-163. ⟨10.4236/wjns.2014.42018⟩
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A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.

Michelle Simon , Simon Greenaway , Jacqueline White , Helmut Fuchs , Valérie Gailus-Durner
Genome Biology, 2013, 14 (7), pp.R82. ⟨10.1186/gb-2013-14-7-r82⟩
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The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model

Matthieu Raveau , Jacques Lignon , Valérie Nalesso , Arnaud Duchon , Yoram Groner
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Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development

Benjamin K. Dickerman , Christine L. White , Claire Chevalier , Valerie Nalesso , Cyril Charles
PLoS ONE, 2011, 6 (12), pp.e28537. ⟨10.1371/journal.pone.0028537⟩
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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.

J. Braudeau , L. Dauphinot , A. Duchon , A. Loistron , R. H. Dodd
Adv Pharmacol Sci, 2011, 2011, pp.e-153218. ⟨10.1155/2011/153218⟩
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Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice.

Jérôme Braudeau , B. Delatour , Arnaud Duchon , Philippe Lopes Pereira , Luce Dauphinot
Journal of Psychopharmacology, 2011, 25 (8), pp.1030-42. ⟨10.1177/0269881111405366⟩
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Journal of Neuroscience, 2010, 30 (45), pp.14943-14945. ⟨10.1523/JNEUROSCI.3728-10.2010⟩
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Controlled somatic and germline copy number variation in the mouse model

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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.

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Aneuploidy: from a physiological mechanism of variance to down syndrome.

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Physiological Reviews, 2009, 89 (3), pp.887-920. ⟨10.1152/physrev.00032.2007⟩
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Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development.

Julien Laffaire , Isabelle Rivals , Luce Dauphinot , Fabien Pasteau , Rosine Wehrle
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Genetics, 2008, 180 (1), pp.51-9. ⟨10.1534/genetics.108.092312⟩
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Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.

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Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.

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Human Molecular Genetics, 2007, 16 (17), pp.2040-52. ⟨10.1093/hmg/ddm152⟩
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Cre/loxP-mediated chromosome engineering of the mouse genome.

V. Brault , V. Besson , L. Magnol , A. Duchon , Y. Hérault
Handb Exp Pharmacol, 2007, 178, pp.29-48. ⟨10.1007/978-3-540-35109-2_2⟩
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KIT is required for hepatic function during mouse post-natal development.

Laetitia Magnol , Marie-Clémence Chevallier , Valérie Nalesso , Stéphanie Retif , Helmut Fuchs
BMC Developmental Biology, 2007, 7 (81), pp.81. ⟨10.1186/1471-213X-7-81⟩
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Proteomic shifts in embryonic stem cells with gene dose modifications suggest the presence of balancer proteins in protein regulatory networks.

Lei Mao , Claus Zabel , Marion Herrmann , Tobias Nolden , Florian Mertes
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Modeling chromosomes in mouse to explore the function of genes, genomic disorders and chromosomal organisation

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PLoS Genetics, 2006, in press, in press
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Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

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Training and aging modulate the loss-of balance phenotype observed in a new ENU-induced allele of Otopetrin1

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Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1.

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EMPReSS: standardised phenotype screens for functional annotation of the mouse genome

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Serial deletions and duplications suggests a mechanism for the collinearity of Hoxd genes in limbs

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Genetics of dark skin in mice

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A nested deletion approach to generate CRE deleter mice with progressive Hox profiles

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Evolutionnary conserved sequences are required for the insulation of the vertebrate HoxD complex in neural cells

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Serum factors and v-src control two complementary mitogenic pathways in quail neuroretinal cells in culture.

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Serotonin 2B receptor potentiates erythropoietin-induced mobilization of endothelial progenitor cells: contribution to hypoxic pulmonary arterial hypertension?

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Identification d'une nouvelle ADN méthyltransférase « DNMT3C » qui protège les cellules germinales mâles de l'activité des transposons

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Characterization of new genomic regions involved in male reproduction by ENU-mediated chemical mutagenesis strategy

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MEMRI for the morphological and functional study of mouse brain: application to the Down syndrome

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Chan-Vese based method to segment mouse brain MRI images: application to cerebral malformation analysis in trisomy 21

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