Gene overdosage and comorbidities during the early lifetime in Down Syndrome

Deliverables

Project leaflet for individuals with DS, their families, clinicians and scientists and professional templates

Publications

COVID-19 vaccination of individuals with Down syndrome-data from the trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to be Vaccinated

Author(s): Alberto Costa; Ana Claudia Brandao; Diego Real de Asua; Andre Strydom; Yona Lunsky; Dr. Sujay Ghosh; Brian Chicoine; Giuseppina Sgandurra; Angelo Carfì; Johannes Levin; Anke Hüls; Monica Lakhanpaul
Published in: Vaccines, Issue 4, 2022, ISSN 2076-393X
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/vaccines10040530

Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome

Author(s): Ilario De TomaI Cesar SierraI Mara Dierssen
Published in: PLOS Computational Biology, Issue 17(9), 2021, ISSN 1553-734X
Publisher: Public Library of Science
DOI: 10.1371/journal.pcbi.1009317

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

Author(s): Helin Atas-Ozcan, Véronique Brault, Arnaud Duchon, and Yann Herault
Published in: Pubmed, Issue 11, 2021, Page(s) 1833, ISSN 2073-4425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12111833

Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey.

Author(s): Hüls, Anke; Costa, Alberto C. S.; Dierssen, Mara; Baksh, R. Asaad; Bargagna, Stefania; Baumer, Nicole T.; Brandão, Ana Claudia; Carfi, Angelo; Carmona Iragui, María; Chicoine, Brian; Ghosh, Sujay; Lakhanpaul, Monica; Manso, Coral; Mayer, Miguel-Angel; Ortega, Maria del Carmen; de Asua, Diego Real; Rebillat, Anne-Sophie; Russell, Lauren Ashley; Sgandurra, Giuseppina; Valentini, Diletta; Sherman,
Published in: Elsevier, Issue 1, 2021, ISSN 0346-251X
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.eclinm.2021.100769

Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview

Author(s): Mattias F. Lindberg, Laurent Meijer
Published in: International Journal of Molecular Sciences, Issue 22/11, 2021, Page(s) 6047, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms22116047

Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey

Author(s): Pinku, Halder; Hüls, Anke; Feany, Patrick T.; Baumer, Nicole; Dierssen, Mara; Bargagna, Stefania; Costa, Alberto C.S.; Chicoine, Brian Allen; Rebillat, Anne-Sophie; Sgandurra, Giuseppina; Valentini, Diletta; Rohrer, R. Tilman; Levin, Johannes; Lakhanpaul, Monica; Carfì, Angelo; Sherman, Stephanie L.; Strydom, Andre; Ghosh, Sujay; Trisomy Research Society Covid-Initiative Study Group
Published in: Journal of Global Health, Issue 4, 2022, ISSN 2047-2978
Publisher: Journal of Global Health
DOI: 10.7189/jogh.12.05035

Re-establishment of the epigenetic state and rescue of kinome deregulation in Ts65Dn mice upon treatment with green tea extract and environmental enrichment

Author(s): I. De Toma, M. Ortega, S. Catuara-Solarz, C. Sierra, E. Sabidó, M. Dierssen
Published in: Scientific Reports, Issue 10/1, 2020, ISSN 2045-2322
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-020-72625-z

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

Author(s): Mara Dierssen, Marta Fructuoso, María Martínez de Lagrán, Marzia Perluigi, Eugenio Barone
Published in: Frontiers in Neuroscience, Issue 14, 2020, ISSN 1662-453X
Publisher: Froniers in Neuroscience
DOI: 10.3389/fnins.2020.00670

Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models

Author(s): Arnaud Duchon, Maria del Mar Muniz Moreno, Sandra Martin Lorenzo, Marcia Priscilla Silva de Souza, Claire Chevalier, Valérie Nalesso, Hamid Meziane, Paulo Loureiro de Sousa, Vincent Noblet, Jean-Paul Armspach, Veronique Brault, Yann Herault
Published in: Human Molecular Genetics, Issue 30/9, 2021, Page(s) 771-788, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddab012

Cerebral phospho-tau acts synergistically with soluble Aβ42 leading to Mild Cognitive Impairment in AAV-AD rats.

Author(s): B. Souchet, M. Audrain, Y. Gu, M. F. Lindberg, N. S. Orefice, E. Rey, N. Cartier, N. Janel, L. Meijer & Jérôme Braudeau
Published in: Journal of Prevention of Alzeihmer disease, Issue Vol 9, 2022, Page(s) 480–490, ISSN 1944-4036
Publisher: Springer Link
DOI: 10.14283/jpad.2022.18

Design and Microwave Synthesis of New (5Z) 5-Arylidene-2-thioxo-1,3-thiazolinidin-4-one and (5Z) 2-Amino-5-arylidene-1,3-thiazol-4(5H)-one as New Inhibitors of Protein Kinase DYRK1A

Author(s): Khadidja Bourahla 1ORCID,Solène Guihéneuf 1,Emmanuelle Limanton 1,2ORCID,Ludovic Paquin 1,2,Rémy Le Guével 3,Thierry Charlier 3,4,Mustapha Rahmouni 5,Emilie Durieu 6,7,Olivier Lozach 7ORCID,François Carreaux 1,Laurent Meijer 6 andJean-Pierre Bazureau 1,
Published in: Microrganisms, Issue 14(11), 2021, ISSN 2076-2607
Publisher: MDPI
DOI: 10.3390/ph14111086

Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome

Author(s): Diego Real de Asua; Miguel A. Mayer; María del Carmen Ortega; Jose M. Borrel; Teresa de Jesús Bermejo; Domingo González-Lamuño; Coral Manso; Fernando Moldenhauer; María Carmona-Iragui; Anke Hüls; Stephanie L. Sherman; Andre Strydom; Rafael de la Torre; Mara Dierssen
Published in: Journal of Clinical Medicine, Issue 3, 2021, ISSN 1520-4804
Publisher: Journal of Clinical Medicine
DOI: 10.3390/jcm10163748

Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records

Author(s): Aisha Aslam; Asaad Baksh; Sarah Pape; Go-DS Consortium; Andre Strydom; Martin Gulliford; Li Chan
Published in: Diabetes Care 45, (2022), Issue 9, 2022, Page(s) 2892–2899, ISSN 0149-5992
Publisher: American Diabetes Association
DOI: 10.2337/dc22-0482

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

Author(s): Maria del Mar Muñiz Moreno; Claire Gavériaux-Ruff; Yann Herault
Published in: Crossref, Issue 4, 2023, ISSN 1471-2105
Publisher: BioMed Central
DOI: 10.1186/s12859-022-05111-0

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Author(s): Véronique Brault; Thu Lan Nguyen; Javier Flores-Gutiérrez; Giovanni Iacono; Marie-Christine Birling; Valérie Lalanne; Hamid Meziane; Antigoni Manousopoulou; Guillaume Pavlovic; Loic Lindner; Mohammed Selloum; Tania Sorg; Eugene Yu; Eugene Yu; Spiros D. Garbis; Yann Herault
Published in: "PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩", Issue 5, 2021, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1101/2021.05.01.442242

Advantages of using graph databases to explore chromatin conformation capture experiments.

Author(s): D'Agostino, Daniele; Lio, Pietro; Aldinucci, Marco; Merelli, Ivan
Published in: BMC Bioinformatics, Issue 6, 2021, ISSN 1471-2105
Publisher: BioMed Central
DOI: 10.17863/cam.68698

Lamivudine, a Reverse Transcriptase Inhibitor, Rescues Cognitive Deficits in a Mouse Model of Down Syndrome

Author(s): Maria Martinez de Lagran; Aleix Elizalde‐Torrent; Roger Paredes; Bonaventura Clotet; Mara Dierssen
Published in: Crossref, Issue 10, 2022, Page(s) 4210-4215, ISSN 2940-1798
Publisher: Epub
DOI: 10.21203/rs.3.rs-1158032/v1

Nutrition and its role in epigenetic inheritance of obesity and diabetes across generations

Author(s): Daniela Kaspar, Sieglinde Hastreiter, Martin Irmler, Martin Hrabé de Angelis, Johannes Beckers
Published in: Mammalian Genome, Issue 31/5-6, 2020, Page(s) 119-133, ISSN 0938-8990
Publisher: Springer Verlag
DOI: 10.1007/s00335-020-09839-z

Social Factors Influence Behavior in the Novel Object Recognition Task in a Mouse Model of Down Syndrome

Author(s): Cesar Sierra1, Ilario De Toma2, Lorenzo Lo Cascio1, Esteban Vegas3 and Mara Dierssen1,4,5*
Published in: Frontiers in Behavioral Neurosciences, Issue Volume 15, 2021, ISSN 1662-5153
Publisher: Frontiers Research Foundation
DOI: 10.3389/fnbeh.2021.772734

Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK

Author(s): R. Asaad Baksh; Andre Strydom; Sarah E. Pape; Li F. Chan; Martin C. Gulliford
Published in: Crossref, Issue 1, 2022, Page(s) 2009–2015, ISSN 0967-0912
Publisher: Institute of Materials
DOI: 10.1007/s11606-022-07420-9

Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition.

Author(s): Sergio Espeso-Gil; Sergio Espeso-Gil; Sergio Espeso-Gil; Aliaksei Z. Holik; Sarah Bonnin; Shalu Jhanwar; Shalu Jhanwar; Sandhya Chandrasekaran; Sandhya Chandrasekaran; Roger Pique-Regi; Júlia Albaigès-Ràfols; Júlia Albaigès-Ràfols; Michael Maher; Michael Maher; Michael Maher; Jon Permanyer; Manuel Irimia; Manuel Irimia; Manuel Irimia; Marc R. Friedländer; Meritxell Pons-Espinal; Meritxell P
Published in: Front. Mol. Neurosci. Sec. Molecular Signalling and Pathways, Issue 5, 2021, ISSN 1664-3224
Publisher: Frontiers
DOI: 10.3389/fnmol.2021.664912

Rethinking Intellectual Disability from Neuro- to Astro-Pathology

Author(s): Álvaro Fernández-Blanco, Mara Dierssen
Published in: International Journal of Molecular Sciences, Issue 21/23, 2020, Page(s) 9039, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21239039

Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

Author(s): Arnaud Duchon; Maria del Mar Muñiz Moreno; Claire Chevalier; Valérie Nalesso; Philippe Andre; Marta Fructuoso-Castellar; Mary Mondino; Chrystelle Po; Vincent Noblet; Marie-Christine Birling; Marie-Claude Potier; Yann Herault
Published in: https://hal.archives-ouvertes.fr/hal-03891136, Issue 7, 2022, ISSN 2046-6390
Publisher: Disease Models and Mechanisms
DOI: 10.1242/dmm.049721

Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors.

Author(s): Tania Tahtouh; Emilie Durieu; Benoît Villiers; Céline Bruyère; Thu Lan Nguyen; Xavier Fant; Kwang H. Ahn; Leepakshi Khurana; Emmanuel Deau; Mattias F. Lindberg; Elodie Sévère; Frédéric Miege; Didier Roche; Emmanuelle Limanton; Jean-Martial L’Helgoual’ch; Guillaume Burgy; Solène Guiheneuf; Yann Herault; Debra A. Kendall; François Carreaux; Jean-Pierre Bazureau; Laurent Meijer
Published in: https://hal.science/hal-03512536, Issue 1, 2022, ISSN 1545-1151
Publisher: U.S. Dept. of Health and Human Services
DOI: 10.1021/acs.jmedchem.1c01141

Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK.

Author(s): R. Asaad Baksh; Sarah E Pape; James Smith; Andre Strydom
Published in: BMJ Open, Issue 4, 2021, ISSN 2044-6055
Publisher: BMJ Publishing Group
DOI: 10.1136/bmjopen-2021-052482

COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.

Author(s): David Emes; Anke Hüls; Nicole Bäumer; Mara Dierssen; Shiela Puri; Lauren Ashley Russell; Stephanie L. Sherman; Andre Strydom; Stefania Bargagna; Ana Cláudia Brandão; Alberto C.S. Costa; Patrick T Feany; Brian Chicoine; Sujay Ghosh; Anne-Sophie Rebillat; Giuseppina Sgandurra; Diletta Valentini; Tilman R. Rohrer; Johannes Levin; Johannes Levin; Monica Lakhanpaul
Published in: Journal of Clinical Medicine, Issue 3, 2021, ISSN 2077-0383
Publisher: MDPI
DOI: 10.3390/jcm10215125

The Computational Patient has Diabetes and a COVID

Author(s): Pietro Barbiero; Pietro Liò
Published in: Issue 2, 2021
Publisher: ArxiV
DOI: 10.1101/2020.06.10.20127183

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